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Correlation of APOE,SLCO1B1 and LPA KIV-2 gene polymorphisms with coronary heart disease in the Teochew population 认领 引用 被引量：2
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作者 Jia-Xin Xu Ye Wu +3 位作者 Lin Zhang Yong-Hao Wu Chun-Lai Li Fen Lin 《World Journal of Cardiology》 2025年第9期43-53,共11页
BACKGROUND Coronary heart disease(CHD)is a prominent cause of mortality and disability worldwide.Like most complex diseases,the risk of CHD in individuals is regulated by the interaction between genetic factors and li... BACKGROUND Coronary heart disease(CHD)is a prominent cause of mortality and disability worldwide.Like most complex diseases,the risk of CHD in individuals is regulated by the interaction between genetic factors and lifestyle.APOE and SLCO1B1 genetic polymorphisms and LPA KIV-2 copy number variation may influence the development and progression of CHD.Clarifying gene polymor-phisms can guide clinical precision and prevention,thereby improving treatment outcomes.AIM To investigate the influence of APOE and SLCO1B1 gene polymorphisms,as well as LPA KIV-2 copy number variation on CHD in the Teochew population.METHODS A total of 324 patients with CHD and 143 control participants were involved in this study.Single nucleotide polymorphisms rs429358 and rs7412 in the APOE gene,and rs2306283 and rs4149056 in the SLCO1B1 gene were analyzed via high-resolution melting curve analysis.Additionally,PCR was performed to detect KIV-2 copy number variations.Clinical risk factors and potential effects on CHD patients were subsequently assessed.RESULTS In the CHD group,the frequencies of APOE alleleε2,ε3,ε4 were 8.02%,82.97%,and 9.10%,respectively.Compared to the control groups(13.29%,79.37%,and 7.34%,respectively),theε2 allele frequency showed a significant difference(8.02%vs 13.29%,P=0.012).SLCO1B1 allele frequencies in the CHD group were not significantly different from those in the control group(*1a:26.69%vs 25.52%,*1b:61.17%vs 65.38%,*5:0.15%vs 0.35%,*15:11.83%vs 8.74%).The number of copies of the KIV-2 gene was significantly lower in the CHD group when compared to controls(23.35±8.78 vs 27.21±9.48;P<0.01).Logistic regression analysis revealed that sex,age,hypertension,diabetes,smoking,theε2 allele and KIV-2 copy number were factors influencing the presence of CHD.CONCLUSION In the Teochew population,the APOEε2 allele and a higher KIV-2 copy number were associated with a reduced risk of CHD.In contrast,the APOEε4 allele and SLCO1B1 gene were not associated with CHD. 展开更多
关键词 Gene polymorphisms Coronary heart disease Teochew population APOE SLCO1B1 KIV-2
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Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population 认领 引用 被引量：1
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作者 Cai-Yun Zhang Yan-Lin Chen +6 位作者 Fang Hou Yan-Zhi Li Wan-Xin Wang Lan Guo Cai-Xia Zhang Li Li Ci-Yong Lu 《World Journal of Psychiatry》 SCIE 2025年第10期98-108,共11页
BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as ... BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD. 展开更多
关键词 Autism spectrum disorder Folate metabolism Gene polymorphism Susceptibility Severity
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Personalized folic acid supplementation in pregnant women based on MTHFR and MTRR gene polymorphisms 认领 引用
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作者 Xiaojun Pang Qianqian Li +1 位作者 Dongwang Li Yingjun Zhang 《Journal of Chinese Pharmaceutical Sciences》 CAS CSCD 2025年第11期1041-1050,共10页
Folic acid(FA)deficiency during pregnancy is a significant risk factor for neural tube defects in infants.Appropriate supplementation with FA has been shown to effectively mitigate the risk of such congenital anomalie... Folic acid(FA)deficiency during pregnancy is a significant risk factor for neural tube defects in infants.Appropriate supplementation with FA has been shown to effectively mitigate the risk of such congenital anomalies.However,genetic polymorphisms related to FA metabolism influence individual variations in FA utilization among pregnant women,highlighting the need for personalized supplementation strategies.This study aimed to explore the impact of genetic variations in FA metabolism-related genes,specifically methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR),on tailoring FA supplementation during pregnancy.Using fluorescence hybridization sequencing,we analyzed polymorphisms in the MTHFR and MTRR genes among 694 pregnant women,who were divided into an individualized supplementation group and a control group.Pregnancy outcomes were monitored through outpatient visits and telephone follow-ups to evaluate the effect of personalized FA supplementation guided by genetic profiling.Notable differences in genotype frequencies of MTHFR(rs1801133,rs1801131)and MTRR(rs1801394)were observed between pregnant women with and without a heightened risk of FA metabolism disorders(P<0.05).Similarly,allele frequencies of MTHFR(rs1801133)and MTRR(rs1801394)varied significantly among women with different risk profiles(P<0.05).The results demonstrated that the individualized group exhibited significantly lower incidences of birth defects,preterm delivery,spontaneous abortion,premature rupture of membranes,abnormal amniotic fluid,and gestational hypertension compared to the control group(P<0.05).These findings suggested that polymorphisms in MTHFR and MTRR genes were key determinants of FA metabolism and might contribute to adverse pregnancy outcomes in populations with a high prevalence of FA metabolism disorders.Furthermore,integrating genetic screening into FA supplementation protocols enabled more effective prevention of pregnancy complications and improved overall maternal and fetal health outcomes. 展开更多
关键词 Folic acid Gene polymorphism Methylenetetrahydrofolate reductase Methionine synthase reductase Pregnancy outcome
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Association between Glutathione S-transferase Gene Polymorphisms and Lung Squamous Cell Carcinoma in Patients with Chronic Obstructive Pulmonary Disease: A Case-control Study 认领 引用
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作者 Mengdan Zhao Jiqing Hao 《Proceedings of Anticancer Research》 2025年第6期104-118,共15页
This case-control study evaluated the frequency of Glutathione S-transferase Mu 1(GSTM1)deletion and Glutathione S-transferase Alpha 1(GSTA1)mutation in chronic obstructive pulmonary disease(COPD)patients,whether they... This case-control study evaluated the frequency of Glutathione S-transferase Mu 1(GSTM1)deletion and Glutathione S-transferase Alpha 1(GSTA1)mutation in chronic obstructive pulmonary disease(COPD)patients,whether they had concomitant lung squamous cell carcinoma(LSCC)or not,to assess their connection with cancer susceptibility.By means of multivariate logistic regression analysis,the GSTM1 null genotype serves as a significant standalone risk factor for LSCC,in addition to variables like age,smoking history,emphysema,body mass index(BMI),albumin level,and neutrophil-to-lymphocyte ratio(NLR).A predictive model incorporating these factors demonstrated superior discriminative ability compared to the established COPD Lung Cancer Screening Score(COPD-LUCSS). 展开更多
关键词 Case-control study Chronic obstructive pulmonary disease Gene polymorphism Glutathione S-transferase Lung squamous cell carcinoma
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Cytokine and apoptosis gene polymorphisms influence the outcome of hepatitis C virus infection 认领 引用 被引量：4
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作者 Leila Ksiaa Cheikhrouhou Imen Sfar +5 位作者 Hajer Aounallah-Skhiri Houda Aouadi Salwa Jendoubi-Ayed Taieb Ben Abdallah Khaled Ayed Yousr Lakhoua-Gorgi 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS 2011年第3期280-288,共9页
BACKGROUND:Hepatitis C virus (HCV) infection is thought to be chronic and the factors leading to viral clearance or persistence are poorly understood.This study was undertaken to investigate the possibility of a signi... BACKGROUND:Hepatitis C virus (HCV) infection is thought to be chronic and the factors leading to viral clearance or persistence are poorly understood.This study was undertaken to investigate the possibility of a significant relationship between the spontaneous clearance or the persistence of hepatitis C virus (HCV) infection and cytokine and apoptosis gene polymorphisms in Tunisian patients on hemodialysis.METHODS:Polymorphisms of the genes IL-1 (-889 IL-1α,-511 and +3954 IL-1β,IL-1Ra),IL-18 (-137 and-607),IL-12 (-1188) and Apo1/Fas (-670) were determined by PCR-RFLP,PCR-SSP and PCR-VNTR in 100 healthy blood donors and 100 patients infected with HCV and undergoing hemodialysis.The patients were classified into two groups:G1 consisted of 76 active chronic hepatitis patients (positive for HCV RNA) and G2 consisted of 24 hemodialysed patients who spontaneously eliminated the virus (negative for HCV RNA).RESULTS:The frequency of genotype association [-137GC/-607CA] IL-18 was higher in G2 (41.7%) than in G1 (15.8%) (P=0.008;OR=0.26;95% CI,0.10-0.73).We also found a higher frequency of the AA genotype of the Apo1/Fas gene in G2 (41.6%) than in G1 (17.5%) (P=0.026;OR=3.49;95% CI,1.13-10.69).Adjustment for known covariate factors (age,gender and genotype) confirmed these univariate findings and revealed that the genotype association GC-CA of the (-137 and-607) IL-18 gene and the AA genotype of the Apo1/Fas gene were associated with the clearance of HCV (P=0.041 and 0.017,respectively).CONCLUSION:The two genotypes GC-CA of the (-137 and-607) IL-18 polymorphism and the AA genotype of the Apo1/Fas gene influence the outcome of HCV infection in Tunisian patients on hemodialysis. 展开更多
关键词 hepatitis C virus spontaneous clearance cytokine gene polymorphisms Apo1/Fas gene polymorphisms
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UGT1A1 gene polymorphism: Impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer 认领 引用 被引量：33
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作者 Christoph Schulz Volker Heinemann +5 位作者 Andreas Schalhorn Nikolas Moosmann Thomas Zwingers Stefan Boeck Clemens Giessen Hans-Joachim Stemmler 《World Journal of Gastroenterology》 SCIE CAS 2009年第40期5058-5066,共9页
AIM: To investigate the correlation between uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene polymorphisms and irinotecan-associated side effects and parameters of drug efficacy in patients with metastat... AIM: To investigate the correlation between uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene polymorphisms and irinotecan-associated side effects and parameters of drug efficacy in patients with metastatic colorectal cancer (mCRC) receiving a low-dose weekly irinotecan chemotherapeutic regimen. METHODS: Genotypes were retrospectively evaluated by gene scan analysis on the ABI 310 sequencer of the TATAA box in the promoter region of the UGT1A1 gene in blood samples from 105 patients who had received 1st line irinotecan-based chemotherapy for mCRC. RESULTS: The distribution of the genotypes was as follows: wild type genotype (WT) (6/6 ) 39.0%, heterozygous genotype (6/7) 49.5%, and homozygous genotype (7/7) 9.5%. The overall response rate (OR) was similar between patients carrying the (6/7, 7/7) or the WT genotype (6/6) (44.3% vs 43.2%, P = 0.75). Neither time to progression [(TTP) 8.1 vs 8.2 mo, P = 0.97] nor overall survival [(OS) 21.2 vs 18.9 mo, P = 0.73] differed significantly in patients who carried the(6/6) when compared to the (6/7, 7/7) genotype. No significant differences in toxicity were observed: Grade 3 and 4 delayed diarrhoea [(6/7, 7/7) vs (6/6); 13.0% vs 6.2%, P =0.08], treatment delays [(6/7, 7/7) vs (6/6); 25.1% vs 19.3%, P = 0.24] or dose reductions [(6/7, 7/7) vs (6/6); 21.5% vs 27.2%, P = 0.07].CONCLUSION: This analysis demonstrates the non-significant influence of the UGT1A1 gene polymorphism on efficacy and rate of irinotecan-associated toxicity in mCRC patients receiving low-dose irinotecan based chemotherapy. 展开更多
关键词 Irinotecan Colorectal cancer UGTIA1 Gene polymorphism Toxicity Efficacy Delayed diarrhoea Neutropenia
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Risk factors and gene polymorphisms of inflammatory bowel disease in population of Zhejiang,China 认领 引用 被引量：17
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作者 Zi-Wei Wang Feng Ji +2 位作者 Wei-Jun Teng Xiao-Gang Yuan Xiao-Ming Ye 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第1期118-122,共5页
AIM:To identify the risk factors and three single nucleotide polymorphisms(SNPs)of NOD2/CARD15 gene in inflammatory bowel disease(IBD)of the population in Zhejiang,China.METHODS:A case-control study was conducted usin... AIM:To identify the risk factors and three single nucleotide polymorphisms(SNPs)of NOD2/CARD15 gene in inflammatory bowel disease(IBD)of the population in Zhejiang,China.METHODS:A case-control study was conducted using recall questionnaire to collect data on demographic,socioeconomic,lifestyle characteristics and dietary behaviors from 136 determined IBD patients and 136 paired healthy controls.COX regression method was used to screen the statistically significant risk factors for IBD.The polymorphisms of NOD2/CARD15 gene Arg702Trp,Gly908Arg and Leu1007fsinsC were genotyped and further compared between 60 patients with IBD and 60 healthy controls by polymerase chain reaction and restriction fragment length polymorphism.RESULTS:IBD occurred primarily in young and middle-aged people.The mean age for IBD patients was 42.6 years.The ratio of males to females was 1.23:1.COX regression indicated a higher statistical significance in milk,fried food and stress compared with the other postulated risk factors for IBD.None of the patients with IBD and healthy controls had heterozygous or homozygous SNPs variants.CONCLUSION:Milk,fried food and stress are associated with increased risk of IBD.The common variants in NOD2/CARD15 gene are not associated with IBD in China's Zhejiang population. 展开更多
关键词 Inflammatory bowel disease Risk factors Epidemiology Gene polymorphism NOD2/CARD15 gene
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Gut bacteria alteration in obese people and its relationshipwith gene polymorphism 认领 引用 被引量：15
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作者 Hao-Jiang Zuo Zhi-Mei Xie +4 位作者 Wei-Wei Zhang Yong-Ru Li Wei Wang Xiao-Bei Ding Xiao-Fang Pei 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第8期1076-1081,共6页
AIM:To investigate the differences in cultivable gut bacteria and peroxisome proliferator-activated receptorγ2(PPAR-γ2)gene Pro12Ala variation in obese and normal-weight Chinese people.METHODS:Using culture methods,... AIM:To investigate the differences in cultivable gut bacteria and peroxisome proliferator-activated receptorγ2(PPAR-γ2)gene Pro12Ala variation in obese and normal-weight Chinese people.METHODS:Using culture methods,the amounts of Escherichia coli,Enterococci,Bacteroides,Lactobacilli,Bif idobacteria and Clostridium perfringens(C.perfringens)in the feces of 52 obese participants[body mass index(BMI):≥28 kg/m2]and 52 participants of normalweight(BMI:18.5-24 kg/m2)were obtained.Study participants completed comprehensive questionnaires and underwent clinical laboratory tests.The polymerase chain reaction-restriction fragment length polymorphism(PCR-PFLP)assay was used to analyze PPAR-γ2 gene Pro12Ala variation.RESULTS:The obese group exhibited a lower amount of C.perfringens(6.54±0.65 vs 6.94±0.57,P=0.001)and Bacteroides(9.81±0.58 vs 10.06±0.39,P=0.012)than their normal-weight counterparts.No major differences were observed in Pro12Ala genotype distribution between the two groups;however,obese individuals with a Pro/Ala genotype had a signif icantly lower level of Bacteroides(9.45±0.62 vs 9.93±0.51,P=0.027)than those with a Pro/Pro genotype.In addition,the obese group demonstrated a higher stool frequency(U=975,P<0.001)and a looser stool(U=1062,P=0.015)than the normal-weight group.CONCLUSION:Our results indicated interactions among cultivable gut flora,host genetic factors and obese phenotype and this might be helpful for obesity prevention. 展开更多
关键词 Obesity Human gut flora Culture methods Gene polymorphism Peroxisome proliferator-activated receptorγ2
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Job Stress, Gene Polymorphism of β_2-AR, and Prevalence of Hypertension 认领 引用 被引量：15
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作者 SHAN-FA YU WEN-HUI ZHOU +2 位作者 KAI-YOU JIANG GUI-ZHENG GU SHENG WANG 《Biomedical and Environmental Sciences》 SCIE CAS 2008年第3期239-246,共8页
Objective To study the interactive effect of job stress and genetic susceptibility （or gene polymorphism） on hypertension. Methods A cross-sectional epidemiological study was conducted in 452 workers from a thermal ... Objective To study the interactive effect of job stress and genetic susceptibility （or gene polymorphism） on hypertension. Methods A cross-sectional epidemiological study was conducted in 452 workers from a thermal power plant in China. Extrinsic effort, occupational reward, and over-commitment were measured. Hypertensive patients were defined by three phases of screening, reexamination, and final diagnosis. β2-AR genotypes and allele frequencies at amino acid positions 16 （β2-AR-16： Arg→Gly） and 27 （β2-AR-27： Gln→Glu） were identified by PCR-RFLE Results Job stress was related with the prevalence of hypertension in males （P〈0.05）, whereas no significant relationship was found in females （P〉0.05）. Differences in genotypes and allele frequencies of the β2-AR-16 were statistically significant between the hypertension and control groups （P〈0.05）, whereas those of β2-AR-27 were not （P〉0.05）. The prevalence of hypertension was higher in individuals carrying Gly16 allele than in those carrying Arg16 allele of the high job stress group （P〈0.01 or 0.05）. Conclusion High job stress and polymorphism of β2-AR-16 have an interactive effect on the prevalence of hypertension in male workers. 展开更多
关键词 Job stress Hypertension β2-AR Gene polymorphism
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Role of matrix metalloproteinase,tissue inhibitor of metalloproteinase and tumor necrosis factor-α single nucleotide gene polymorphisms in inflammatory bowel disease 认领 引用 被引量：15
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作者 Martin JW Meijer Marij AC Mieremet-Ooms +3 位作者 Ruud A van Hogezand Cornelis BHW Lamers Daniel W Hommes Hein W Verspaget 《World Journal of Gastroenterology》 SCIE CAS 2007年第21期2960-2966,共7页
AIM:To study the (functional) relevance of single nucleotide polymorphisms (SNPs) in genes encoding matrix metalloproteinases (MMP)-1,-2,-3,-9,tissue inhibitors of metalloproteinases (TIMP)-1,-2 and tumor necrosis fac... AIM:To study the (functional) relevance of single nucleotide polymorphisms (SNPs) in genes encoding matrix metalloproteinases (MMP)-1,-2,-3,-9,tissue inhibitors of metalloproteinases (TIMP)-1,-2 and tumor necrosis factor (TNF)-α in the etiopathogenesis of inflammatory bowel diseases (IBD),that may enhance susceptibility and/or disease severity. METHODS:Genomic DNA from 134 Crohn's disease (CD),111 ulcerative colitis (UC) patients and 248 control subjects was isolated from resected intestinal tissue or blood. Allelic composition at SNP loci was determined by PCR-RFLP or tetra primer ARMS PCR. RESULTS:The TIMP-1 genotype TT in women and T in men at SNP +372 T/C was found to increase CD susceptibility (39% vs 23.8%,P=0.018 and 67.9% vs 51.6%,P=0.055,respectively),while women with this genotype were less prone to development of fistulae during follow-up (41.4% vs 68.3%,P=0.025). Male IBD or CD patients carrying the TIMP-1 +372 T-allele expressed lower levels of TIMP-1 in surgically resected macroscopically inflamed tissue (0.065 < P < 0.01). The 5T5T genotype at MMP-3 SNP -1613 5T/6T increased the chance of stenotic complications in CD during follow-up (91.2% vs 71.8%,P = 0.022) but seemed to protect against colonic involvement of this disease at first endoscopicadiologic examination (35.3% vs 59.5%,P=0.017). CONCLUSION:Allelic composition at the examinedSNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype,i.e.,fistulizing disease,stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD. 展开更多
关键词 Crohn＇s disease Ulcerative colitis Matrix metalloproteinases Inhibitors of matrix metalloproteinases Single nucleotide gene polymorphisms
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Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation 认领 引用 被引量：11
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作者 Chao Cen Hai-Xing Fang +5 位作者 Song-Feng Yu Ji-Min Liu Yuan-Xing Liu Lin Zhou Jun Yu Shu-Sen Zheng 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS CSCD 2017年第6期602-609,共8页
BACKGROUND:New-onset diabetes after transplantation(NODAT) has become one of the major factors that affect the overall survival and long-term life quality in liver transplantation(LT) recipients. Previous studies foun... BACKGROUND:New-onset diabetes after transplantation(NODAT) has become one of the major factors that affect the overall survival and long-term life quality in liver transplantation(LT) recipients. Previous studies found that the serum adiponectin concentration of diabetic patients is significantly lower than that of healthy subjects. Adiponectin regulates the blood glucose level by increasing body sensitivity to insulin through various mechanisms. In this study, we aimed to investigate the impact of diabetes related gene polymorphisms on the development of NODAT in liver recipients.METHODS:A total of 256 LT patients in a single-center were selected retrospectively for the study. Genomic DNA was extracted from explanted liver tissues, and tested for twelve diabetes mellitus associated single nucleotide polymorphisms by Sequenom Mass ARRAY. Modified clinical models in predicting NODAT were established and evaluated.RESULTS:The GG genotype of ADIPOQ rs1501299 gene polymorphism was significantly more frequent in NODAT than non-NODAT LT patients(56% vs 39%, P=0.014). Dominant model(GG vs GT+TT, P=0.030) and recessive model(GT+GG vs TT, P=0.005) also confirmed the genotype distribution difference between NODAT and non-NODAT groups. Age(OR=1.048, P=0.004), BMI(OR=1.107, P=0.041), and blood tacrolimus level at 1-month LT(OR=1.170, P=0.003) were clinical independent risk factors of NODAT. Furthermore, rs1501299 could improve the ability of clinical model in predicting NODAT(AUROC=0.743, P<0.001).CONCLUSION:ADIPOQ rs1501299 gene polymorphism is associated with an increased risk of NODAT, which should be added to the clinical models in predicting the occurrence of NODAT in LT recipients. 展开更多
关键词 ADIPOQ gene polymorphisms diabetes mellitus liver transplantation
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Correlating interleukin-10 promoter gene polymorphisms with human cerebral infarction onset 认领 引用 被引量：7
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作者 Xin-hong Jiang Ke-xu Lin +2 位作者 Yi-xian Zhang Rong-hua Chen Nan Liu 《Neural Regeneration Research》 SCIE CAS CSCD 2015年第11期1809-1813,共5页
Evidence suggests that interleukin-10（IL-10） deficiency exacerbates inflammation and worsens the outcome of brain ischemia. In view of the critical role of the single nucleotide polymorphic sites-1082（A/G） and-819... Evidence suggests that interleukin-10（IL-10） deficiency exacerbates inflammation and worsens the outcome of brain ischemia. In view of the critical role of the single nucleotide polymorphic sites-1082（A/G） and-819（C/T） in the promoter region of the IL-10 gene, we hypothesized that they are associated with cerebral infarction morbidity in the Chinese Han population. We genotyped these allelic gene polymorphisms by amplification refractory mutation system-polymerase chain reaction methods in 181 patients with cerebral infarction（cerebral infarction group） and 115 healthy subjects（control group）. We identified significant differences in genotype distribution and allele frequency of the IL-10-1082 A/G allele between cerebral infarction and control groups（χ2 = 6.643, P = 0.010）. The IL-10-1082 A allele frequency was significantly higher in the cerebral infarction group（92.3%） than in the control group（86.1%）（P = 0.015）. Moreover, cerebral infarction risk of the AA genotype was 2-fold higher than with the AG genotype（OR = 2.031, 95%CI： 1.134-3.637）. In addition, AA genotype together with hypertension was the independent risk factor of cerebral infarction（OR = 2.073, 95%CI： 1.278-3.364）. No statistical difference in genotype distribution or allele frequency of IL-10-819 C/T was found between cerebral infarction and control groups（P 〉 0.05）. These findings suggest that the IL-10-1082 A/G gene polymorphism is involved in cerebral infarction, and increased A allele frequency is closely associated with occurrence of cerebral infarction. 展开更多
关键词 neural regeneration IL-IO promoter gene polymorphisms ischemic stroke geneticsusceptibility inflammation immune response ischemia/ reperfusion injury neural regeneration
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Interleukin-10 gene polymorphisms and hepatocellular carcinoma susceptibility:A meta-analysis 认领 引用 被引量：7
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作者 Yong-Gang Wei Fei Liu +7 位作者 Bo Li Xi Chen Yu Ma Lv-Nan Yan Tian-Fu Wen Ming-Qing Xu Wen-Tao Wang Jia-Yin Yang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第34期3941-3947,共7页
AIM:To assess the association between Interleu-kin-10(IL-10)gene IL-10-1082(G/A),IL-10-592(C/A),IL-10-819(T/C)polymorphisms and hepatocellular carcinoma(HCC)susceptibility.METHODS:Two investigators independently searc... AIM:To assess the association between Interleu-kin-10(IL-10)gene IL-10-1082(G/A),IL-10-592(C/A),IL-10-819(T/C)polymorphisms and hepatocellular carcinoma(HCC)susceptibility.METHODS:Two investigators independently searched the Medline,Embase,China National Knowledge Infrastructure,and Chinese Biomedicine Database.Summary odds ratios(ORs)and 95%conf idence intervals(95%CIs)for IL-10 polymorphisms and HCC were cal-culated in a fixed-effects model(the Mantel-Haenszel method)and a random-effects model(the DerSimonian and Laird method)when appropriate.RESULTS:This meta analysis included seven eligiblestudies,which included 1012 HCC cases and 2308 controls.Overall,IL-10-1082 G/A polymorphism was not associated with the risk of HCC(AA vs AG+GG,OR=1.11,95%CI=0.90-1.37).When stratifying for ethnicity,the results were similar(Asian,OR=1.12,95%CI=0.87-1.44;non-Asian,OR=1.10,95%CI=0.75-1.60).In the overall analysis,the IL-10 polymorphism at position-592(C/A)was identified as a genetic risk factor for HCC among Asians;patients carrying the IL-10-592*C allele had an increased risk of HCC(OR=1.29,95%CI=1.12-1.49).No association was observed between the IL-10-819 T/C polymorphism and HCC susceptibility(TT vs TC+CC,OR=1.02,95%CI=0.79-1.32).CONCLUSION:This meta-analysis suggests that IL-10-592 A/C polymorphism may be associated with HCC among Asians.IL-10-1082 G/A and IL-10-819 T/C polymorphisms were not detected to be related to the risk for HCC. 展开更多
关键词 Hepatocellular carcinoma Interleukin-10 Gene polymorphism Meta-analysis
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Methylenetetrahydrofolate Reductase Gene Polymorphism C677T is Associated with Increased Risk of Coronary Heart Disease in Chinese Type 2 Diabetic Patients 认领 引用 被引量：7
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作者 Kunrong Wu Shufang Zhang +4 位作者 Ziwan Guan Xiaoli Li Rui Li Ying Yin Yan Li 《Chinese Medical Sciences Journal》 CAS CSCD 2021年第2期103-109,共7页
Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydro... Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus(T2DM).Previous researches report that methylenetetrahydrofolate reductase gene(MTHFR)polymorphisms might influence the occurrence of coronary heart disease(CHD)in T2DM patients.The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD inT2DM patients.Methods A total of 197 subjects with T2DM were studied,of which 95 patients with CHD.The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method,and compared between patients with CHD and those without CHD.Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD(P=0.011).However,there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD.Furthermore,the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine(Hey)levels(≤15μmol/L)(P=0.006),while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hey levels(>15 μmol/L)(P=0.491).Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hey levels. 展开更多
关键词 methylenetetrahydrofolate reductase gene polymorphism type 2 diabetes mellitus coronary heart diseases homocysteine
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Endothelial Nitric Oxide Synthase Gene Polymorphisms Associated with Susceptibility to High Altitude Pulmonary Edema in Chinese Railway Construction Workers at Qinghai-Tibet over 4500 Meters above Sea Level 认领 引用 被引量：10
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作者 Yu-jing Sun Ming-wu Fang +17 位作者 Wen-quan Niu Guang-ping Li Jing-liang Liu Shou-quan Ding Ying Xu Guo-shu Yu Jian-qun Dong Yun-jun Pan Guang-xue Yu Hui-cheng Sun Zhong-hou Jia Jun Liu Xiao-ming Wang Qin Si Qi-xia Wu Wen-yu Zhou Tong-chun Zhu Chang-chun Qiu 《Chinese Medical Sciences Journal》 CAS 2010年第4期215-221,共7页
Objective To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at... Objective To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level. Methods A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat (VNTR) in intron 4, were genotyped using polymerase chain reaction (PCR) and confirmed with DNA sequencing. Results The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group (P=0.0028 and P=0.0047, respectively). However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes (H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR) were significantly higher in HAPE patients (both P<0.0001). On the contrary, the frequencies of H1 (T-G-b) and H2 (T-G-a) were lower in HAPE patients than in healthy controls (both P<0.001). Conclusions Two haplotypes (T-T-b and C-G-a) may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE. 展开更多
关键词 high altitude pulmonary edema nitric oxide synthase gene polymorphism haplotype
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Relationships between endothelial nitric oxide synthase gene polymorphisms and osteoporosis in postmenopausal women 认领 引用 被引量：6
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作者 Shun-zhi LIU Hong YAN +6 位作者 Wei-kun HOU Peng XU Juan TIAN Li-fang TIAN Bo-feng ZHU Jie MA She-min LU 《Journal of Zhejiang University-SCIENCE B》 SCIE CAS 2009年第8期609-618,共10页
Objective： To investigate the relationships between endothelial nitric oxide synthases （eNOS） G894T and 27 bpvariable number tandem repeat （VNTR） gene polymorphisms and osteoporosis in the postmenopausal women of... Objective： To investigate the relationships between endothelial nitric oxide synthases （eNOS） G894T and 27 bpvariable number tandem repeat （VNTR） gene polymorphisms and osteoporosis in the postmenopausal women of Chinese Han nationality. Methods： In the present study, 281 postmenopausal women from Xi＇an urban area in West China were recruited, and divided into osteoporosis, osteopenia, and normal groups according to the diagnostic criteria of osteoporosis proposed by World Health Organization （WHO）. The bone mineral density （BMD） values of lumbar vertebrae and left hips were determined by QDR-2000 dual energy X-ray absorptiometry. Blood samples were tested for plasma biochemical indicators including testosterone, estradiol, calcitonin, osteocalcin, and procollagen type I amino-terminal propeptide by enzyme-linked immunosorbent assay （ELISA）, tartrate-resistant acid phosphatase by spectrophotometric method, and the content of nitric oxide by Griess method. Genome DNA was extracted from whole blood, and G894T polymorphism of eNOS gene was analyzed by using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method and 27 bp-VNTR polymorphism of eNOS gene was genotyped by PCR method. Then the relationships between genotypes and biochemical indicators, genotypes and osteoporosis, and haplotypes and osteoporosis were analyzed. Results： The average BMD values of the femoral neck, ward＇s triangle and lumbar vertebrae 1-4 （LI-L4） in the subjects with T/T genotype in eNOS G894T locus were significantly higher than those in the subjects with G/T and G/G genotypes （P〈0.05）. The average BMD of the femoral neck in the subjects with a/a genotype of eNOS 27 bp-VNTR locus was evidently higher than that in the subjects with b/b genotype （P〈0.05）. The plasma testosterone and osteocalcin concentrations in the subjects of eNOS G894T G/T genotype were evidently higher than those in the subjects of other genotypes （P〈0.05）; the plasma estradiol concentration in the subjects of eNOS 27 bp-VNTR a/a genotype was obviously higher than that in the subjects of b/b genotype （P〈0.01）. eNOS G/G homozygous frequencies in osteoporosis women, osteopenia women, and normal women were 85.37%, 76.38%, and 83.87%, respectively （P〉0.05）. 0% osteoporosis woman, 0.79% osteopenia women, and 3.23% normal women were eNOS a/a homozygous （P〈0.05）. The frequencies of eNOS 27 bp-VNTR a allele were 5.33% in the osteoporosis group, 10.24% in the osteopenia group, and 16.13% in the normal group （P〈0.05, odds ratio （OR）=0.29, 95% confidence interval （CI）=0.11-0.77）, suggesting that a/a genotype and a allele might have protective effects on osteoporosis. The haplotype analysis showed that G-b was 87.7% （214/244） in the osteoporosis group （P〈0.05, OR=2.48, 95% CI=1. 18-5.18）. G-a was 5.3% （13/244） in the osteoporosis group （P〈0.05, OR=0.29, 95% CI=0. 11-0.77）. G-b was a risk factor for osteoporosis, and G-a a protective factor. Conclusion： eNOS G894T G/T genotype influenced the plasma testosterone and osteocalcin concentrations, and T/T genotype influenced BMD. eNOS 27 bp-VNTR a/a genotype increased plasma estradiol concentration to have a protective effect on osteoporosis. 展开更多
关键词 Postmenopausal women Osteoporosis Endothelial nitric oxide synthase Gene polymorphisms Bone mineral density
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Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3 认领 引用 被引量：7
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作者 Zaigham Abbas Tariq Moatter +1 位作者 Akber Hussainy Wasim Jafri 《World Journal of Gastroenterology》 SCIE CAS 2005年第42期6656-6661,共6页
AIM： To investigate the association between cytokine gene polymorphism and disease status in chronic hepatitis C genotype 3 by liver biopsy, ALl, HCV RNA levels and response to treatment. METHODS： Patients with chro... AIM： To investigate the association between cytokine gene polymorphism and disease status in chronic hepatitis C genotype 3 by liver biopsy, ALl, HCV RNA levels and response to treatment. METHODS： Patients with chronic hepatitis C genotype 3 were analyzed for single nucleotide polymorphisms of interleukin （IL）-10, IL-1 beta, interferon-gamma （IFN-y）, tumor necrosis factor-alpha （TNF-y） and transforming growth factor-beta （TGF-β） by polymerase chain reaction using sequence-specific oligonucleotide primers. Liver biopsies were assessed by modified histological activity index （HAI） scoring system using a scale of 0-18 for grading the necro-inflammatory activity and 0-6 for staging the fibrosis. HCV RNA levels were determined by bDNA assay. The patients were treated with interferon alpha and ribavirin for 6 mo. Sustained virological response was assessed 6 mo after the completion of the treatment. RESULTS： Out of the 40 patients analyzed, 26 were males. Mean age was 40.5±12.5 years （range 18- 65 years）. The frequencies of different dimorphic polymorphisms based on single nucleotide substitution were as follows： IL-10-1082 G/A 85%, A/A 12.5%, G/ G 2.5%; IL-10-819 A/C 87.5%, C/C 10%, A/A 2.5%; IL-10-592 C/A 72.5%, C/C 27.5%; IL-1 C 90%, U 10%; IFN-874 T/A 50%, T/T 27.5%, A/A 22.5%; TNF-308 A/G 95%, G/G 5%; TGF-10 T/C 52.5%, C/C 35%, T/T 12.5%. The mean grades of necroinflammatory activity of different genotypes of IL-10 at promoter site -1082 were A/A = 3.6, A/G = 5.0, and G/G = 10.0 and the difference was significant （P = 0.029）. The difference in the stage of disease at a scale of 0-6 was A/A 0.8, A/G 2.3, and G/G 4.0 （P = 0.079）. The difference in the HAI seemed to be related to the presence of allele -1082G.For IL-10 -819 genotypes, mean scores of fibrosis were A/A = 6.0, A/C = 2.2, and C/C = 1.0 （P = 0.020） though the inflammatory activity was not much different. No significant differences in HAI were noted among polymorphisms of other cytokines. Moreover, ALT and HCV RNA levels were not significantly different among different cytokine polymorphisms. There was a significant correlation of HAI and HCV RNA levels with the duration of disease. TGFI3 -10 genotype CC patients had a better end of treatment response than those with other genotypes （P = 0：020）. Sustained virological response to the treatment was not influenced by the cytokine polymorphism. No effect of other factors like viral load, degree of fibrosis, gender, steatosis, was observed on sustained virological response in this population infected with genotype 3. CONCLUSION： There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphisms. 展开更多
关键词 Interleukin Interferon gamma Tumornecrosis factor alpha Transforming growth factor Cytokines Gene polymorphism Hepatitis C Alanineaminotransferase Liver biopsy
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EFFECTS OF VITAMIN D RECEPTOR GENE POLYMORPHISMS ON SUSCEPTIBILITY TO TYPE 1 DIABETES MELLITUS 认领 引用 被引量：8
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作者 Xin-hua Xiao Zhe-long Liu +4 位作者 Heng Wang Qi Sun Wen-hui Li Guo-hua Yang Qiu-ying Liu 《Chinese Medical Sciences Journal》 CAS 2006年第2期95-98,共4页
Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese H... Objective To investigate the influence of vitamin D receptor （VDR） gene polymorphisms on susceptibility to type 1 diabetes mellitus （T1DM） in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects （ P = 0. 033 ） while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing. 展开更多
关键词 type 1 diabetes mellitus vitamin D receptor gene polymorphism
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Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome:A multicenter retrospective study 认领 引用 被引量：4
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作者 Sabrina Berens Yuanjun Dong +30 位作者 Nikola Fritz Jutta Walstab Mauro D'Amato Tenghao Zheng Verena Wahl Felix Boekstegers Justo Lorenzo Bermejo Cristina Martinez Stefanie Schmitteckert Egbert Clevers Felicitas Engel Annika Gauss Wolfgang Herzog Robin Spiller Miriam Goebel-Stengel Hubert Mönnikes Viola Andresen Frieling Thomas Jutta Keller Christian Pehl Christoph Stein-Thöringer Gerard Clarke Timothy G Dinan Eamonn M Quigley Gregory Sayuk Magnus Simrén Jonas Tesarz Gudrun Rappold Lukas van Oudenhove Rainer Schaefert Beate Niesler 《World Journal of Gastroenterology》 SCIE CAS 2022年第21期2334-2349,共16页
BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bo... BACKGROUND Single-nucleotide polymorphisms(SNPs)of the serotonin type 3 receptor subunit(HTR3)genes have been associated with psychosomatic symptoms,but it is not clear whether these associations exist in irritable bowel syndrome(IBS).AIM To assess the association of HTR3 polymorphisms with depressive,anxiety,and somatization symptoms in individuals with IBS.METHODS In this retrospective study,623 participants with IBS were recruited from five specialty centers in Germany,Sweden,the United States,the United Kingdom,and Ireland.Depressive,anxiety,and somatization symptoms and sociodemographic characteristics were collected.Four functional SNPs—HTR3A c.-42C>T,HTR3B c.386A>C,HTR3C c.489C>A,and HTR3E c.*76G>A—were genotyped and analyzed using the dominant and recessive models.We also performed separate analyses for sex and IBS subtypes.SNP scores were calculated as the number of minor alleles of the SNPs above.The impact of HTR3C c.489C>A was tested by radioligand-binding and calcium influx assays.RESULTS Depressive and anxiety symptoms significantly worsened with increasing numbers of minor HTR3C c.489C>A alleles in the dominant model(Fdepressive=7.475,Pdepressive=0.006;Fanxiety=6.535,Panxiety=0.011).A higher SNP score(range 0-6)was linked to a worsened depressive symptoms score(F=7.710,P-linear trend=0.006)in IBS.The potential relevance of the HTR3C SNP was corroborated,showing changes in the expression level of 5-HT3AC variant receptors.CONCLUSION We have provided the first evidence that HTR3C c.489C>A is involved in depressive and anxiety symptoms in individuals with IBS.The SNP score indicated that an increasing number of minor alleles is linked to the worsening of depressive symptoms in IBS. 展开更多
关键词 Irritable bowel syndrome 5-HT3 receptor subunit gene polymorphisms Single-nucleotide polymorphism score Depression Anxiety Somatization
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Relationship between catecholamine level and gene polymorphism ofβ1 adrenergic receptor G1165C in children with EV71 infection in hand foot and mouth disease 认领 引用 被引量：3
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作者 Zhi-Xian Lei Bang-Tao Li +19 位作者 Hong-Ai Li Xiao-Ming Li Man-Fang Xie Ting Huang Qi Wang Ya-Zhou Wang Qiu-Yu Lin Li-Rong Zhou Nai-Chao Feng Xin Li Dao-Mou Zhu Yuan-Ping Hai Lan Cui Ya-Qin Zhang Zhi-Wen Liu Shou-Ye Wu Yong-Zhao Chen Ke-Qing Zhu Xiao-Jie He Wei Xiang 《Asian Pacific Journal of Tropical Medicine》 SCIE CAS 2017年第5期453-456,共4页
Objective:To investigate the relationship between the levels of plasma adrenaline and norepinephrine and gene polymorphism ofβ1 adrenergic receptor G1165 C in children with enterovirus 71(EV71)infection in hand foot ... Objective:To investigate the relationship between the levels of plasma adrenaline and norepinephrine and gene polymorphism ofβ1 adrenergic receptor G1165 C in children with enterovirus 71(EV71)infection in hand foot and mouth disease(HFMD).Methods:The polymerase chain reaction(PCR)was used to detect the expression of gene polymorphism ofβ1 adrenergic receptor G1165 C in vitro.The levels of plasma adrenaline and norepinephrine were measured by enzyme-linked immunosorbent assay(ELISA).Results:The plasma norepinephrine level of severe group was significantly higher than the mild group in children with EV71 infection in HFMD(P0.05);There was no significant difference in the distribution ofβ1 adrenergic receptor G1165 C genotype and allele between EV71 infection group and healthy control group(P>0.05).Further analysis of EV71 infection group by dividing it into mild and severe groups showed that there was no significant difference in the distribution of genotype and allele between these two groups as well(P>0.05).There was no significant difference in the levels of epinephrine and norepinephrine in different genotypes of EV71 infection group(P>0.05),and in the levels of plasma epinephrine and norepinephrine in the mild and severe groups(P>0.05).Conclusions:As the disease gets worse,the plasma norepinephrine level has a rising trend in children with EV71 infection in HFMD,which is an important indicator to evaluate the progress of the disease.However,the gene polymorphism of eptor G1165 C have no significant correlation,not only with the susceptibility and severitβ1 adrenergic recy of EV71 infection in hand,foot and mouth disease,but also with the levels of catecholamine. 展开更多
关键词 Catecholamine β1 adrenergic receptor Gene polymorphism Enterovirus 71
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