{"title":"Association Between Methylenetetrahydrofoate Reductase Gene C677T Polymorphism and Susceptibility to Polycystic Ovary Syndrome.","authors":"Vandana Rai, Pradeep Kumar","doi":"10.1007/s12291-024-01200-4","DOIUrl":null,"url":null,"abstract":"<p><p>Polycystic ovary syndrome (PCOS) is the most common form of endocrinopathy of women. Several studies have investigated the association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with PCOS risk but the results are contradictory. So, the aim of the present study was to carry out a meta-analysis of a published case control studies to find out exact association between MTHFR gene C677T polymorphism and PCOS susceptibility. Pubmed, Springer link, Science Direct and Google Scholar databases were searched for case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) was used as association measure and meta-analysis was performed using MIX and MetaAnalyst programs. Meta-analysis of 24 studies showed strong significant association between C677T polymorphism and PCOS risk (OR: T vs. C = 1.18, 95% CI 1.01-1.38, <i>p</i> = 0.03; OR: TT vs. CC = 1.37, 95% CI 1.0-1.89, <i>p</i> = 0.04; OR: TT + CT vs. CC = 1.31, 95% CI 1.07-1.62, <i>p</i> = 0.008; OR: CT vs. CC = 1.31, 95% CI 1.04-1.62, <i>p</i> = 0.02 and OR: TT vs. CT + CC = 1.10, 95% CI = 0.82-1.47, <i>p</i> = 0.04). In subgroup analysis, MTHFR C677T polymorphism is significantly associated with PCOS risk with Asian individuals but in Caucasian population MTHFR C677T polymorphism was not significantly associated with PCOS risk. In conclusion, C677T polymorphism is a risk factor for PCOS.</p>","PeriodicalId":13280,"journal":{"name":"Indian Journal of Clinical Biochemistry","volume":"40 3","pages":"382-391"},"PeriodicalIF":1.5000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229383/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Clinical Biochemistry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12291-024-01200-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/19 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Polycystic ovary syndrome (PCOS) is the most common form of endocrinopathy of women. Several studies have investigated the association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with PCOS risk but the results are contradictory. So, the aim of the present study was to carry out a meta-analysis of a published case control studies to find out exact association between MTHFR gene C677T polymorphism and PCOS susceptibility. Pubmed, Springer link, Science Direct and Google Scholar databases were searched for case-control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) was used as association measure and meta-analysis was performed using MIX and MetaAnalyst programs. Meta-analysis of 24 studies showed strong significant association between C677T polymorphism and PCOS risk (OR: T vs. C = 1.18, 95% CI 1.01-1.38, p = 0.03; OR: TT vs. CC = 1.37, 95% CI 1.0-1.89, p = 0.04; OR: TT + CT vs. CC = 1.31, 95% CI 1.07-1.62, p = 0.008; OR: CT vs. CC = 1.31, 95% CI 1.04-1.62, p = 0.02 and OR: TT vs. CT + CC = 1.10, 95% CI = 0.82-1.47, p = 0.04). In subgroup analysis, MTHFR C677T polymorphism is significantly associated with PCOS risk with Asian individuals but in Caucasian population MTHFR C677T polymorphism was not significantly associated with PCOS risk. In conclusion, C677T polymorphism is a risk factor for PCOS.
多囊卵巢综合征(PCOS)是女性最常见的内分泌疾病。一些研究调查了亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与PCOS风险的关系,但结果相互矛盾。因此,本研究的目的是对已发表的病例对照研究进行meta分析,以找出MTHFR基因C677T多态性与PCOS易感性之间的确切关系。检索Pubmed、施普林格link、Science Direct和谷歌Scholar数据库进行病例对照研究。比值比(ORs)和95%置信区间(CIs)作为关联度量,使用MIX和MetaAnalyst程序进行meta分析。24项研究的荟萃分析显示,C677T多态性与PCOS风险之间存在显著相关性(OR: T vs. C = 1.18, 95% CI 1.01-1.38, p = 0.03;OR: TT vs. CC = 1.37, 95% CI 1.0 ~ 1.89, p = 0.04;或:TT + CT与CC = 1.31, 95% CI 1.07 - -1.62, p = 0.008;或者:CT与CC = 1.31, 95% CI 1.04 - -1.62, p = 0.02或:TT和CT + CC = 1.10, 95% CI -1.47 = 0.82, p = 0.04)。在亚组分析中,MTHFR C677T多态性与亚洲个体的PCOS风险显著相关,而在高加索人群中,MTHFR C677T多态性与PCOS风险无显著相关性。综上所述,C677T多态性是PCOS的危险因素。
期刊介绍:
The primary mission of the journal is to promote improvement in the health and well-being of community through the development and practice of clinical biochemistry and dissemination of knowledge and recent advances in this discipline among professionals, diagnostics industry, government and non-government organizations. Indian Journal of Clinical Biochemistry (IJCB) publishes peer reviewed articles that contribute to the existing knowledge in all fields of Clinical biochemistry, either experimental or theoretical, particularly deal with the applications of biochemistry, molecular biology, genetics, biotechnology, and immunology to the diagnosis, treatment, monitoring and prevention of human diseases. The articles published also include those covering the analytical and molecular diagnostic techniques, instrumentation, data processing, quality assurance and accreditation aspects of the clinical investigations in which chemistry has played a major role, or laboratory animal studies with biochemical and clinical relevance.