Association of methylenetetrahydrofolate reductase gene polymorphisms with polycystic ovary syndrome

• Published in: Zhonghua yi xue yi chuan xue za zhi Vol. 32; no. 3; p. 400
• Main Authors: Qi, Qiwei, Zhang, Hongyan, Yu, Meiying, Wang, Xueqian, Wang, Zhaohui, Xu, Li, Wang, Jie, Mu, Hongxin
• Format: Journal Article
• Language: Chinese
• Published: China 01-06-2015
• Subjects: Adolescent; Adult; Alleles; Case-Control Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Polycystic Ovary Syndrome - enzymology; Polycystic Ovary Syndrome - genetics; Polymorphism, Single Nucleotide; Young Adult
• ISSN: 1003-9406
• DOI: 10.3760/cma.j.issn.1003-9406.2015.03.022

To assess the association of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene with the susceptibility to polycystic ovary syndrome (PCOS).
Blood samples of 115 PCOS patients and 58 fertile women (for whom PCOS has been excluded) were collected for DNA extraction. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for determining the C677T and A1298C polymorphisms. A database has been set up with Epidata and a significance test was performed with a statistical analysis system.
A significant difference has been found in the allele frequencies of MTHFR gene 677 C and T polymorphisms between the two groups (P<0.01), for which T allele has increased the risk for PCOS by 2.06 times. Heterozygous and homozygous genotypes at position 677 (CT and TT) were more common among PCOS cases than controls, with an OR of 3.91 (95%CI: 1.70-8.97) and 4.39 (95%CI: 1.77-10.89), respectively. There was no statistical difference in genotypic distribution of MTHFR