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Vitamin D,vitamin D receptor gene polymorphisms,and inflammatory bowel disease outcomes:From molecular mechanisms to clinical application 认领 引用
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作者 Beatriz Gabriela Costa Ryan Nunes Yoshio Yoshihara +7 位作者 Amanda Luísa Spiller Natalia Salvador Castelhano Andrey Santos Júlio Pinheiro Baima Marcello Imbrizi Maiara Brusco De Freitas Daniéla Oliveira Magro Ligia Yukie Sassaki 《World Journal of Gastroenterology》 SCIE CAS 2026年第15期9-23,共15页
Inflammatory bowel diseases(IBD),including Crohn’s disease and ulcerative colitis,arise from intricate interactions among genetic,environmental,microbial,and immune factors.Beyond its classical role in calcium and bo... Inflammatory bowel diseases(IBD),including Crohn’s disease and ulcerative colitis,arise from intricate interactions among genetic,environmental,microbial,and immune factors.Beyond its classical role in calcium and bone metabolism,vitamin D has emerged as a key regulator of the intestinal barrier integrity and immune homeostasis.Vitamin D deficiency is highly prevalent in these disorders,mainly because of malabsorption,dietary restrictions,chronic inflammation,and impaired metabolic activation.Genetic variants of the vitamin D receptor,such as ApaI,TaqI,BsmI,and FokI polymorphisms,may alter receptor function and downstream signaling,influencing disease susceptibility and progression.These polymorphisms have been linked to impaired epithelial barrier function,dysregulated nucleotide-binding oligomerization domain-containing protein 2 signaling,and exaggerated immune activation,central to IBD pathogenesis.Despite growing evidence,clinical assessment and correction of vitamin D deficiency in IBD remain inconsistent,and the influence of vitamin D receptor polymorphisms on therapeutic responses has not been sufficiently characterized.Understanding the interplay between vitamin D status and genetic background could support individualized management strategies.This review underscores the potential of vitamin D supplementation as an adjunctive approach,particularly in patients receiving immunosuppressive or biologic therapies,and emphasizes the need for personalized monitoring to optimize outcomes in IBD. 展开更多
关键词 Vitamin D Vitamin D receptor Genetic polymorphisms Crohn’s disease Ulcerative colitis Inflammatory bowel disease
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Prognostic significance of germline ARID5B and LEPR polymorphisms in intrahepatic and perihilar cholangiocarcinoma after curative resection 认领 引用
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作者 Guanwu Wang Carlos Otto +11 位作者 Dong Liu Tarick M Al-Masri Smiths S Lueong Jens Siveke Tom Luedde Daniel Heise Florian WR Vondran Franziska Alexandra Meister Georg Lurje Ulf Neumann Lara Heij Jan Bednarsch 《World Journal of Gastrointestinal Oncology》 SCIE 2026年第7期213-230,共18页
BACKGROUND Cholangiocarcinoma(CCA)is a biologically heterogeneous and aggressive biliary malignancy associated with poor survival outcomes despite surgical resection.Germline genetic variants,including single-nucleoti... BACKGROUND Cholangiocarcinoma(CCA)is a biologically heterogeneous and aggressive biliary malignancy associated with poor survival outcomes despite surgical resection.Germline genetic variants,including single-nucleotide polymorphisms(SNPs),may modulate tumor behavior and inform postoperative risk stratification.AIM To evaluate the prognostic relevance of selected tumor-related SNPs in patients with intrahepatic CCA(iCCA)and perihilar CCA(pCCA).METHODS In this single-centre retrospective cohort study,we genotyped eight SNPs in cancer-associated genes(ARID5B,LEPR,TERT,SH2B3,MMEL1,PROM1,HDAC7,RUNX3)in 229 patients(112 iCCA,117 pCCA)who underwent curative-intent resection between 2009 and 2020.RESULTS Associations between SNPs and recurrence-free survival(RFS),cancer-specific survival(CSS),and overall survival(OS)were assessed using Kaplan-Meier analysis,univariate,and multivariate Cox regression models.The rs10740055 AA genotype in ARID5B was associated with significantly shorter RFS[hazard ratio(HR)=1.87,P=0.017],CSS(HR=1.78,P=0.033)and OS(HR=1.79,P=0.021)in iCCA as well as shorter RFS(HR=1.84,P=0.031),CSS(HR=2.18,P=0.005)and OS(HR=1.84,P=0.001)univariate analyses.However,only in iCCA did it retain significance in multivariate analysis alongside other important clinicopathological variables(RFS:HR=2.41,P=0.005;CSS:HR=2.27,P=0.020 and OS:HR=4.10,P=0.001).Further,the LEPR rs1137101 GG genotype was associated with significantly shorter RFS(HR=1.91,P=0.010).Germline variants in ARID5B and LEPR were associated with poorer prognosis following resection for CCA,with rs10740055 in ARID5B serving as an independent predictor of survival particularly in iCCA.CONCLUSION These findings support the potential utility of incorporating host genetic markers into postoperative prognostic models for CCA.Prospective validation and mechanistic studies are warranted. 展开更多
关键词 Cholangiocarcinoma Single-nucleotide polymorphisms ARID5B LEPR Prognostic biomarker
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Substantia nigra-related gene polymorphisms associated with acute antipsychotic-induced movement disorders 认领 引用
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作者 Kenji Hashimoto 《Military Medical Research》 SCIE CAS CSCD 2026年第2期338-339,共2页
Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),a... Antipsychotics,especially many second-generation antipsychotics(SGAs),remain central to schizophrenia treatment,are indispensable in acute mania and for bipolar maintenance(with selected roles in bipolar depression),and serve as evidence-based augmenters in treatment-resistant depression.Nonetheless,acute antipsychotic-induced movement disorders(AIMDs)[extrapyramidal symptoms(EPS)]are common and clinically costly,impairing quality of life,adherence,and outcomes.The acute spectrum is dominated by dystonia(sustained,often painful contractions). 展开更多
关键词 Antipsychotic Movement disorder Polymorphism Substantia nigra
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Single-nucleotide polymorphisms and copy number variations drive adaptive evolution to freezing stress in a subtropical evergreen broadleaved tree:Hexaploid wild Camellia oleifera 认领 引用 被引量：2
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作者 Haoxing Xie Kaifeng Xing +3 位作者 Jun Zhou Yao Zhao Jian Zhang Jun Rong 《Plant Diversity》 SCIE CAS CSCD 2025年第2期214-228,共15页
Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wil... Subtropical evergreen broad-leaved trees are usually vulnerable to freezing stress,while hexaploid wild Camellia oleifera shows strong freezing tolerance.As a valuable genetic resource of woody oil crop C.oleifera,wild C.oleifera can serve as a case for studying the molecular bases of adaptive evolution to freezing stress.Here,47 wild C.oleifera from 11 natural distribution sites in China and 4 relative species of C.oleifera were selected for genome sequencing.“Min Temperature of Coldest Month”(BIO6)had the highest comprehensive contribution to wild C.oleifera distribution.The population genetic structure of wild C.oleifera could be divided into two groups:in cold winter(BIO6≤0℃)and warm winter(BIO6>0℃)areas.Wild C.oleifera in cold winter areas might have experienced stronger selection pressures and population bottlenecks with lower Ne than those in warm winter areas.155 singlenucleotide polymorphisms(SNPs)were significantly correlated with the key bioclimatic variables(106 SNPs significantly correlated with BIO6).Twenty key SNPs and 15 key copy number variation regions(CNVRs)were found with genotype differentiation>50%between the two groups of wild C.oleifera.Key SNPs in cis-regulatory elements might affect the expression of key genes associated with freezing tolerance,and they were also found within a CNVR suggesting interactions between them.Some key CNVRs in the exon regions were closely related to the differentially expressed genes under freezing stress.The findings suggest that rich SNPs and CNVRs in polyploid trees may contribute to the adaptive evolution to freezing stress. 展开更多
关键词 Adaptive evolution Camellia oleifera Copy number variations Freezing stress Polyploid Single-nucleotide polymorphisms
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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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Activin A receptor type 1C single nucleotide polymorphisms associated with esophageal squamous cell carcinoma risk in Chinese population 认领 引用 被引量：2
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作者 Si-Yun Lin Hou Huang +13 位作者 Jin-Jie Yu Feng Su Tian Jiang Shao-Yuan Zhang Lu Lv Tao Long Hui-Wen Pan Jun-Qing Qi Qiang Zhou Wei-Feng Tang Guo-Wen Ding Li-Ming Wang Li-Jie Tan Jun Yin 《World Journal of Gastrointestinal Oncology》 SCIE 2025年第1期39-51,共13页
BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis th... BACKGROUND Transforming growth factor-β(TGF-β)superfamily plays an important role in tumor progression and metastasis.Activin A receptor type 1C(ACVR1C)is a TGF-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent ligands.AIM To evaluate the correlation between single nucleotide polymorphisms(SNPs)of ACVR1C and susceptibility to esophageal squamous cell carcinoma(ESCC)in Chinese Han population.METHODS In this hospital-based cohort study,1043 ESCC patients and 1143 healthy controls were enrolled.Five SNPs(rs4664229,rs4556933,rs77886248,rs77263459,rs6734630)of ACVR1C were assessed by the ligation detection reaction method.Hardy-Weinberg equilibrium test,genetic model analysis,stratified analysis,linkage disequi-librium test,and haplotype analysis were conducted.RESULTS Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC,and those with rs77886248 TA mutant were related with higher risk,especially in older male smokers.In the haplotype analysis,ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 was associated with lower susceptibility to ESCC.CONCLUSION ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC,which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population. 展开更多
关键词 Activin A receptor type 1C Single nucleotide polymorphisms Esophageal squamous cell carcinoma Genetic susceptibility Hospital-based cohort study
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Evaluating the scope of human leukocyte antigen polymorphisms influencing hepatitis B virus-related liver cancer and cirrhosis through multi-clustering analysis 认领 引用
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作者 Shi Li Yue Xi +3 位作者 Xue-Ying Dong Wen-Bin Yuan Jing-Feng Tang Ce-Fan Zhou 《World Journal of Gastroenterology》 SCIE CAS 2025年第7期156-159,共4页
Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on sp... Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers. 展开更多
关键词 Hepatitis B virus Gene polymorphisms Multi-clustering analysis Genetic markers Personalized medicine Clinical implications
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Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution 认领 引用 被引量：1
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作者 Mariarosaria D'Amato Gennaro Iengo +1 位作者 Nicola Massa Chiara Carlomagno 《World Journal of Gastrointestinal Oncology》 SCIE 2025年第1期101-109,共9页
BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associat... BACKGROUND Fluoropyrimidines are metabolized in the liver by the enzyme dihydropyrimidine dehydrogenase(DPD),encoded by the DPYD gene.About 7%of the European population is a carrier of DPYD gene polymorphisms associated with reduced DPD enzyme activity.AIM To assess the prevalence of DPYD polymorphisms and their impact on fluoropyrimidine tolerability in Italian patients with gastrointestinal malignancies.METHODS A total of 300 consecutive patients with a diagnosis of gastrointestinal malignancy and treated with a fluoropyrimidine-based regimen were included in the analysis and divided into two cohorts:(1)149 patients who started fluoropyrimidines after DPYD testing;and(2)151 patients treated without DPYD testing.Among the patients in cohort A,15%tested only the DPYD2A polymorphism,19%tested four polymorphisms(DPYD2A,HapB3,c.2846A>T,and DPYD13),and 66%tested five polymorphisms including DPYD6.RESULTS Overall,14.8%of patients were found to be carriers of a DPYD variant,the most common being DPYD6(12.1%).Patients in cohort A reported≥G3 toxicities(P=0.00098),particularly fewer nonhematological toxicities(P=0.0028)compared with cohort B,whereas there was no statistically significant difference between the two cohorts in hematological toxicities(P=0.6944).Significantly fewer chemotherapy dose reductions(P=0.00002)were observed in cohort A compared to cohort B,whereas there was no statistically significant differences in chemotherapy delay.CONCLUSION Although this study had a limited sample size,it provides additional information on the prevalence of DPYD polymorphisms in the Italian population and highlights the role of pharmacogenetic testing to prevent severe toxicity. 展开更多
关键词 Dihydropyrimidine dehydrogenase DPYD polymorphisms Fluoropyrimidine Caucasian population Gastrointestinal cancers
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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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Single-nucleotide polymorphisms in genes involved in folate metabolism or selected other metabolites and risk for gestational diabetes mellitus 认领 引用
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作者 Ting-Ting Zheng Jia-He Liu +9 位作者 Wan-Tong Huang Bo Hong Di Wang Chun-Yi Liu Jie Zhang Si-Si Li Shao-Wei Wu Qi Wang Lei Chen Lei Jin 《World Journal of Diabetes》 SCIE 2025年第5期135-147,共13页
BACKGROUND There are conflicting results on the potential correlation between folic acid and gestational diabetes mellitus(GDM),and the correlation between genetic factors related to folic acid metabolism pathways and... BACKGROUND There are conflicting results on the potential correlation between folic acid and gestational diabetes mellitus(GDM),and the correlation between genetic factors related to folic acid metabolism pathways and GDM remains to be revealed.AIM To examine the association between single-nucleotide polymorphisms(SNPs)of enzyme genes in the folate metabolite pathway as well as that between GDM-related genes and risk for GDM.METHODS A nested case-control study was conducted with GDM cases(n=412)and healthy controls(n=412).DNA was extracted blood samples and SNPs were genotyped using Agena Bioscience’s MassARRAY gene mass spectrometry system.The associations between different SNPs of genes and the risk for GDM were estimated using logistic regression models.The generalized multi-factor dimensionality reduction(GMDR)method was used to analyze gene-gene and gene-environment interactions using the GMDR 0.9 software.RESULTS The variation allele frequency of melatonin receptor 1B(MTNR1B)rs10830963 was higher in the GDM group than in controls(P<0.05).MTNR1B rs10830963 mutant G was associated with risk for GDM[adjusted odds ratio(aOR):1.43;95%confidence interval(95%CI):1.13-1.80]in the additive model.MTNR1B rs10830963 GG+GC was significantly associated with the risk for GDM(aOR:1.65;95%CI:1.23-2.22)in the dominant model.The two-locus model of MTNR1B rs10830963 and CHEMERIN rs4721 was the best model(P<0.05)for gene-gene interactions in the GMDR results.The high-risk rs10830963×rs4721 type of interaction was a risk factor for GDM(aOR:2.09;95%CI:1.49-2.93).CONCLUSION This study does not find an association between SNPs of folate metabolic enzymes and risk for GDM.The G mutant allele of MTNR1B rs10830963 is identified as a risk factor for GDM in the additive model,and there may be gene-gene interactions between MTNR1B rs10830963 and CHEMERIN rs4721.It is conducive to studying the causes of GDM and provides a new perspective for the precise prevention of this disease. 展开更多
关键词 Gestational diabetes mellitus Folate Gene Deoxyribonucleic acid Single nucleotide polymorphisms
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Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and non-communicable diseases:an umbrella review of systematic reviews and meta-analyses 认领 引用 被引量：1
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作者 Zheng Xingting Liu Lu +7 位作者 Deng Mingyu Hu Zhongmei Yu Rui Yang Jing Xiao Yanling Wu Wei Zhou Yuanzhong Liu Jun 《遵义医科大学学报》 2025年第6期587-601,共15页
Methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in folate metabolism.Its genetic polymorphisms affect the metabolism of methyl donors,including folate and betaine,and are consequently associated with the dev... Methylenetetrahydrofolate reductase(MTHFR)is a key enzyme in folate metabolism.Its genetic polymorphisms affect the metabolism of methyl donors,including folate and betaine,and are consequently associated with the development of various chronic diseases such as stroke and neoplasms.Methods This umbrella review,covering the period from 2006 to 2025,searched PubMed,Embase,Web of Science,Medline,CNKI,WanFang,and Cochrane Library databases for published systematic reviews and meta-analyses of polymorphisms relating to the MTHFR C677T and A1298C gene polymorphisms and various chronic diseases.Subsequently,this study assessed methodological quality with AMSTAR-2,while the strength of evidence for each outcome was graded according to the GRADE and the credibility evaluation.This umbrella review included 39 studies related to 8 diseases classified according to the ICD-10 classification.Results Overall,C677T exhibited a positive correlation with depression(allele:OR=1.18,95%CI:1.13-1.24;dominant:OR=1.16,95%CI:1.09-1.23;recessive:OR=1.42,95%CI:1.30-1.56;homozygote:OR=1.48,95%CI:1.34-1.63),and polycystic ovary syndrome(allele:OR=1.35,95%CI:1.24-1.46;dominant:OR=1.46,95%CI:1.30-1.64;recessive:OR=1.39,95%CI:1.19-1.62;homozygote:OR=1.63,95%CI:1.38-1.93),and exhibited a negative correlation with oral cancer(allele:OR=0.24,95%CI:0.22-0.26;dominant:OR=0.14,95%CI:0.12-0.16;recessive:OR=0.31,95%CI:0.28-0.35;homozygote:OR=0.14,95%CI:0.12-0.16).A1298C was positively associated with polycystic ovary syndrome in four models(allele:OR=1.93,95%CI:1.67-2.21;dominant:OR=1.93,95%CI:1.64-2.27;recessive:OR=3.72,95%CI:2.47-5.61;homozygote:OR=4.38,95%CI:2.90-6.62).Conclusion The MTHFR C677T and A1298C gene polymorphisms demonstrated significant associations with non-communicable diseases,thereby contributing to the advancement of precision medicine. 展开更多
关键词 one-carbon metabolism MTHFR gene polymorphisms non-communicable diseases meta-analyses
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Correction to:Genetic Polymorphisms of 21 STR Loci of GoldeneyeTMDNA ID 22 NCKit in Five Ethnic Groups of China 认领 引用
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《Forensic Sciences Research》 CSCD 2025年第2期119-119,共1页
This is a correction to:Jiashuo Zhang,Yun Bao,Ruiyang Tao,Fei Guo,Xiang Sheng,Yingnan Bian,Xiling Liu,Suhua Zhang,Chengtao Li,Genetic Polymorphisms of 21 STR Loci of Goldeneye TMDNA ID22NC Kit in Five Ethnic Groups of... This is a correction to:Jiashuo Zhang,Yun Bao,Ruiyang Tao,Fei Guo,Xiang Sheng,Yingnan Bian,Xiling Liu,Suhua Zhang,Chengtao Li,Genetic Polymorphisms of 21 STR Loci of Goldeneye TMDNA ID22NC Kit in Five Ethnic Groups of China,Forensic Sciences Research,Volume 4,Issue 4,December 2019,Pages 348-350,http://gffzzd3cc09b8251d45dfsf0w9ko5vw66w6bvc.ffgz.tsg.suse.edu.cn/10.1080/20961790.2018.1479148。 展开更多
关键词 goldeneye tmdna id nc kit str loci ethnic groups Goldeneye TM DNA ID China genetic polymorphisms
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Role of gene polymorphisms in gastric cancer and its precursor lesions:Current knowledge and perspectives in Latin American countries 认领 引用 被引量：7
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作者 Miguel Angel Chiurillo 《World Journal of Gastroenterology》 SCIE CAS 2014年第16期4503-4515,共13页
Latin America shows one of the highest incidence rates of gastric cancer in the world,with variations in mortality rates among nations or even within countries belonging to this region.Gastric cancer is the result of ... Latin America shows one of the highest incidence rates of gastric cancer in the world,with variations in mortality rates among nations or even within countries belonging to this region.Gastric cancer is the result of a multifactorial complex process,for which a multistep model of carcinogenesis is currently accepted.Additionally to the infection with Helicobacter pylori,that plays a major role,environmental factors as well as genetic susceptibility factors are significant players at different stages in the gastric cancer process.The differences in population origin,demographic structure,socio-economic development,and the impact of globalization lifestyles experienced in Latin America in the last decades,all together offer opportunities for studying in this context the influence of genetic polymorphisms in the susceptibility to gastric cancer.The aim of this article is to discuss current trends on gastric cancer in Latin American countries and to review the available published information about studies of association of gene polymorphisms involved in gastric cancer susceptibility from this region of the world.A total of 40 genes or genomic regions and69 genetic variants,58%representing markers involved in inflammatory response,have been used in a number of studies in which predominates a low number of individuals(cases and controls)included.Polymorphisms of IL-1B(-511 C/T,14 studies;-31 T/C,10 studies)and IL-1RN(variable number of tandem repeats,17 studies)are the most represented ones in the reviewed studies.Other genetic variants recently evaluated in large metaanalyses and associated with gastric cancer risk were also analyzed in a few studies[e.g.,prostate stem cell antigen(PSCA),CDH1,Survivin].Further and better analysis centered in gene polymorphisms linked to other covariates,epidemiological studies and the information provided by meta-analyses and genome-wide association studies should help to improve our understanding of gastric cancer etiology in order to develop appropriate health programs in Latin America. 展开更多
关键词 Latin America Gastric cancer Precancerous lesions Gene polymorphisms Single nucleotide polymorphisms
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Association of QPRT gene polymorphisms with postpartum depression in Chinese cesarean parturients:A candidate gene association study 认领 引用
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作者 ZHAO Shanshan LIN Guoxin +3 位作者 LI Ziyuan PING Anqi WANG Saiying DUAN Kaiming 《中南大学学报（医学版）》 CAS CSCD 北大核心 2025年第12期2214-2225,共12页
Objective:Postpartum depression(PPD)is a common and serious mental disorder after childbirth,imposing a heavy burden on mothers,infants,and families.Abnormalities in the tryptophan-kynurenine(TRP-KYN)metabolic pathway... Objective:Postpartum depression(PPD)is a common and serious mental disorder after childbirth,imposing a heavy burden on mothers,infants,and families.Abnormalities in the tryptophan-kynurenine(TRP-KYN)metabolic pathway are considered to be involved in its pathogenesis,but the role of quinolinic acid phosphoribosyltransferase(QPRT),a key downstream enzyme in this pathway,remains unclear.This study aims to explore the association between PPD in women undergoing cesarean section and QPRT gene polymorphisms,as well as other risk factors for PPD.Methods:A candidate gene association study design was adopted.From January 2024 to June 2025,full-term singleton pregnant women scheduled to undergo elective cesarean section under spinal anesthesia were recruited at the Third Xiangya Hospital of Central South University and Hunan Provincial Maternal and Child Health Hospital.At 42 days postpartum,postpartum depression was assessed using the Edinburgh Postnatal Depression Scale(EPDS).Peripheral blood samples were collected and genomic DNA was extracted.Four QPRT single nucleotide polymorphism loci(rs1134700,rs2303255,rs9922666,and rs9933310)were selected for genotyping to analyze the association between these loci and PPD.Bioinformatics analysis and dual-luciferase reporter gene assays were performed to investigate the possible mechanism by which significant loci influence disease occurrence.Results:A total of 362 women were ultimately included in the analysis,among whom 29 were diagnosed with PPD,with an incidence of 8.01%.Analysis of general data showed that comorbid hypertension or thyroid disease,inconsistency between neonatal sex and expectation,prenatal depression,prenatal self-harm ideation,domestic violence,poor marital and mother-in-law/daughter-in-law relationships,stressful life events,dissatisfaction with current life status,poor mood during pregnancy,and high stress during pregnancy were all risk factors for PPD in women undergoing cesarean section(all PG polymorphism was associated with PPD.Women carrying the rs9933310 GG or AG genotype had a 2.92-fold higher risk of PPD compared with women with the AA genotype(OR=2.92,95%CI 1.18 to 6.99).Expression quantitative trait loci(eQTL)analysis suggested that the G allele at this locus was associated with downregulation of QPRT expression(AA>AG>GG).Multi-database queries indicated that the rs9933310 locus may have promoter and/or enhancer activity.In addition,JASPAR database prediction and experimental validation showed that the mutant(G)allele at the QPRT rs9933310 locus was more likely than the wild-type(A)allele to weaken promoter-enhancer activity at this locus,and resulted in loss of transcription factors Gata1,GATA2,GATA3,Gata4,Sox17,Sox2,Sox3,Sox6,and SRY,thereby regulating QPRT expression.Conclusion:Comorbid hypertension or thyroid disease,inconsistency between neonatal sex and expectation,prenatal depression,prenatal self-harm ideation,domestic violence,poor marital and mother-in-law/daughter-in-law relationships,stressful life events,dissatisfaction with current life status,poor mood during pregnancy,high stress during pregnancy,and mutation at the QPRT rs9933310 locus are all risk factors for PPD.The QPRT rs9933310 G allele is an independent risk factor for PPD in women undergoing cesarean section,and its pathogenic mechanism may involve downregulation of QPRT expression and disruption of TRP-KYN pathway homeostasis.QPRT has a potential role in the pathogenesis of PPD and may become a novel antidepressant target acting on the TRPKYN pathway. 展开更多
关键词 QPRT gene postpartum depression tryptophan-kynurenine metabolic pathway single nucleotide polymorphism cesarean section parturients
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Group-specific component and 25-hydroxylase gene polymorphisms in nasopharyngeal carcinoma:Associations with susceptibility and radiotherapy response 认领 引用
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作者 Liu Liu Dian-Yu Shi +2 位作者 Jie Tan Shan Xu Chao-Ran Liu 《World Journal of Clinical Oncology》 2025年第12期118-129,共12页
BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and acti... BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and activation[25-hydroxylase(CYP2R1)enzyme],may influence NPC susceptibility and radiotherapy response.Polymorphisms in GC and CYP2R1 genes affect protein function and serum 25-hydroxyvitamin D[25(OH)D]levels,and are implicated in other cancers.However,their role in NPC-particularly in high-risk Han Chinese populations-and interaction with vitamin D status remains unclear.This case control study(360 NPC patients,550 controls)investigates these relationships to inform prevention and personalized therapy.AIM To investigate the association between vitamin D binding protein(GC)and CYP2R1 gene polymorphisms with susceptibility to NPC and radiotherapy response.METHODS A case control study design was adopted,and 360 patients with NPC and 550 healthy controls were included.TaqMan method was used to perform genotyping on GC gene loci rs4588,rs7041,and CYP2R1 gene loci rs10741657,rs12794714.Serum 25(OH)D levels were detected,and the relationship between gene polymorphisms and NPC risk and radiotherapy response was analyzed.RESULTS The GC gene rs4588 TT genotype was significantly associated with the risk of NPC in both the codominant model[odds ratio(OR)=1.68,95%CI:1.15-2.45,P=0.007]and the recessive model(OR=1.56,95%CI:1.02-2.38,P=0.039).The association between the rs4588 TT genotype and the risk of NPC was more significant in the male subgroup(OR=1.87,95%CI:1.11-3.15,P=0.019)and the squamous cell carcinoma subgroup(OR=1.89,95%CI:1.19-3.00,P=0.007).The serum 25(OH)D level of the rs7041 AA genotype carriers was significantly lower than that of the CC genotype(P<0.001).The CYP2R1 gene rs10741657 AA genotype was associated with higher serum 25(OH)D levels(P=0.003).The rs12794714 AA genotype was associated with radiotherapy resistance(OR=1.76,95%CI:1.18-2.63,P=0.005).Stratified analysis showed that the association between rs4588 and rs12794714 was significant only in the subgroup with higher 25(OH)D levels.CONCLUSION GC and CYP2R1 genes polymorphisms are associated with NPC susceptibility and radiotherapy response,and this association may be affected by serum 25(OH)D levels.This study provides a new idea for the prevention and individualized treatment in NPC. 展开更多
关键词 Group-specific component protein 25-hydroxylase Single nucleotide polymorphism Nasopharyngeal carcinoma Susceptibility Radiotherapy response
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Role of polymorphisms and microRNA levels in predicting cardiovascular events in patients with acute myocardial infarction 认领 引用
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作者 Toan Hoang Ngo Son Kim Tran 《World Journal of Cardiology》 2025年第10期66-79,共14页
Acute myocardial infarction(AMI)remains a leading global cause of morbidity and mortality,with high risk of recurrent adverse cardiovascular events.Conventional diagnostic markers often lack the sensitivity needed for... Acute myocardial infarction(AMI)remains a leading global cause of morbidity and mortality,with high risk of recurrent adverse cardiovascular events.Conventional diagnostic markers often lack the sensitivity needed for early detection and prognostic stratification.Recent advances highlight the role of microRNAs(miRNAs)and their genetic polymorphisms in regulating inflammation,fibrosis,and endothelial function in atherosclerotic disease.This review summarizes evidence on circulating miRNA expression and miRNA-related single nucleotide polymorphisms as biomarkers in AMI.Literature from PubMed,Scopus,and Web of Science was evaluated,focusing on pathways involving NF-κB,interleukin-1 receptoroll-like receptors,and JAK/STAT signaling.Circulating miRNAs such as miR-150,miR-208,miR-26a,and miR-483-5p demonstrate strong diagnostic accuracy,while polymorphisms,particularly rs2910164 in miR-146a,are consistently associated with AMI susceptibility and adverse outcomes.These findings suggest that miRNAs and their variants may serve as non-invasive tools for diagnosis and risk prediction,supporting future integration into precision cardiovascular medicine. 展开更多
关键词 Acute myocardial infarction Circulating microRNA Major adverse cardiovascular event Coronary artery disease MicroRNA polymorphism
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Recent advances in research on gene polymorphisms in Kawasaki disease 认领 引用
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作者 Zhuo-Ya Yang Yan Pan 《World Journal of Clinical Pediatrics》 2025年第3期88-96,共9页
Kawasaki disease(KD)is a systemic vasculitis primarily affecting children,and represents a major cause of acquired heart disease in this population.Although the etiology of KD remains incompletely understood,existing ... Kawasaki disease(KD)is a systemic vasculitis primarily affecting children,and represents a major cause of acquired heart disease in this population.Although the etiology of KD remains incompletely understood,existing genome-wide association studies and genome-wide linkage studies have uncovered various susceptibility genes and their associated chromosomal regions as closely related to the onset and progression of KD.With the rapid advancement of high-throughput DNA sequencing technology,an increasing amount of genomic information pertinent to KD has been discovered,offering new perspectives to investigate the pathogenesis of KD.In particular,genetic polymorphisms play a pivotal role in the immune response,coronary artery lesions,and treatment responsiveness in KD,providing fresh insights into optimizing diagnostic and therapeutic strategies.This article aimed to review and summarize the crucial role of genetic polymorphisms in the pathogenesis of KD,analyze the latest advancements in current research,and discuss the potential applications of gene polymorphism studies in the future diagnosis and treatment of KD. 展开更多
关键词 Kawasaki disease Genetic polymorphism Coronary artery lesion Immune response Environmental factors
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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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Mn-SOD and CuZn-SOD polymorphisms and interactions with risk factors in gastric cancer 认领 引用 被引量：18
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作者 Jian-Feng Yi Shi-Liang Kang +6 位作者 Xiang-Ting Zeng Yu-Min Li Tao Liu Jun-Qiang Zhang Wen-Ting He Xun Li Wen-Ce Zhou 《World Journal of Gastroenterology》 SCIE CAS 2010年第37期4738-4746,共9页
AIM: To investigate the effects of superoxide dismutase (SOD) polymorphisms (rs4998557 , rs4880), Helicobacter pylori (H. pylori ) infection and environmental factors in gastric cancer (GC) and malignant potential of ... AIM: To investigate the effects of superoxide dismutase (SOD) polymorphisms (rs4998557 , rs4880), Helicobacter pylori (H. pylori ) infection and environmental factors in gastric cancer (GC) and malignant potential of gastric precancerous lesions (GPL). METHODS: Copper-zinc superoxide dismutase (SOD1, CuZn-SOD)-G7958A (rs4998557 ) and manganese superoxide dismutase (SOD2, Mn-SOD)-Val16Ala (rs4880 ) polymorphisms were genotyped by SNaPshot multiplex polymerase chain reaction (PCR) in 145 patients with GPL (87 cases of gastric ulcer, 33 cases of gastric polyps and 25 cases of atrophic gastritis), 140 patients with GC and 147 healthy controls. H. pylori infection was detected by immunoblotting analysis. RESULTS: The SOD1-7958A allele was associated with a higher risk of gastric cancer [odds ratio (OR) = 3.01, 95% confidence intervals (95% CI): 1.83-4.95]. SOD216Ala/Val genotype was a risk factor for malignant potential of GPL (OR = 2.04, 95% CI: 1.19-3.49). SOD216Ala/genotype increased the risk of gastric cancer (OR = 2.85, 95% CI: 1.66-4.89). SOD1-7958A/genotype, SOD2-16Ala/genotype, alcohol drinking, positive family history and type Ⅰ H. pylori infection were associated with risk of gastric cancer, and there were additive interactions between the two genotypes and the other three risk factors. SOD2-16Ala/Val genotype and positive family history were associated with malignant potential of GPL and jointly contributed to a higher risk for malignant potential of GPL (OR = 7.71, 95% CI: 2.10-28.22). SOD1-7958A/genotype and SOD2-16Ala/genotype jointly contributed to a higher risk for gastric cancer (OR = 6.43, 95% CI: 3.20-12.91). CONCLUSION: SOD1-7958A/and SOD2-16Ala/-genotypes increase the risk of gastric cancer in Chinese Han population. SOD2-16Ala/-genotype is associated with malignant potential of GPL. 展开更多
关键词 Copper-zinc superoxide dismutase Manganese superoxide dismutase Gastric cancer Gastric precancerous lesions Gene polymorphisms Interaction
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Association between CYP2C19*2/*3Polymorphisms and Coronary Heart Disease 认领 引用 被引量：13
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作者 Ying-ying ZHANG Xin ZHOU +4 位作者 Wen-jie JI Ting LIU Jing MA Ying ZHANG Yu-ming LI 《Current Medical Science》 SCIE CAS 2019年第1期44-51,共8页
This study sought to explore the relationship between cytochrome P450 2C19(CYP2C19)*2/*3 polymorphisms and the development of coronary heart disease(CHD),and to evaluate the influence of the single nucleotide polymorp... This study sought to explore the relationship between cytochrome P450 2C19(CYP2C19)*2/*3 polymorphisms and the development of coronary heart disease(CHD),and to evaluate the influence of the single nucleotide polymorphisms(SNPs)on the occurrence of adverse clinical events in CHD patients.A total of 231 consecutive patients candidate for percutaneous coronary intervention genotyped for CYP2C19*2(681G>A)and*3(636G>A)polymorphisms were enrolled.The adverse clinical events were recorded during a follow-up period of 14 months.The incidence of CHD,according to coronary angiography,was significantly higher(P=0.025)in CYP2C19*2 carriers group.Stepwise binary logistic regression analysis revealed that among factors that potentially influenced the presence of CHD(age>60 years,gender,BMI,etc.),CYP2C19*2 carriers(OR 1.94,95%CI:1.08-3.50,P=0.028)and male gender(OR 2.74,95%CI:1.58-4.76,P=0.001)were independent predictors,which were associated with the presence of CHD.The follow-up results showed that the incidence of adverse cardiovascular events within 14 months of discharge was significantly higher in the CYP2C 19*2 carriers than in the non-carriers(21.6%vs.6.3%,P=0.019).The results of the multivariate Cox proportional hazards model showed that CYP2C19*2 loss-of-flinction was the only independent factor which predicted the coronary events during the follow-up period of 14 months(OR=3.65,95%CI:1.09-12.25,P=0.036).The adverse impact of CYP2C19*2 polymorphisms was found not only in the risk of the presence of CHD,but also in the adverse cardiovascular events in CHD patients during the follow-up period of 14 months.However the same influence was not found in CYP2C19*3 mutation in Chinese Han population. 展开更多
关键词 cytochrome P450 2C19 polymorphisms coronary heart disease clopidogrel
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