The polycystic ovarian syndrome is the utmost common endocrinopathy state in women. It is related to both reproductive and metabolic disorders. The MTHFR gene associated with the ovarian follicular action encodes the 5-MTHFR (methylenetetra-hydrofolate reductase) enzyme, tangled in folate metabolism. MTHFR gene C677T polymorphism declines the enzyme activity and thus folate deficit and increases the level of homocysteine, which affects the progress of oocytes. Here, we evaluated the association of MTHFR gene C677T polymorphism withPolycystic ovary syndrome (PCOS) inthe South Indian cohortof women. About 129 PCOS women with following Rotterdam criteria and 90 women controls were studied. PCR-RFLP technique was carried out on all PCOS women in this study. Dissimilarities in hormone levels in PCOS patients were detected. MTHFR gene polymorphism CC, CT, TT genotype was found to be 74, 16, 9.30% in patients correspondingly. However, in controls, it was 44.4, 24, 31%, respectively. A substantial difference was detected in the genotype frequency distributions among the patients and controls. Also, allele frequency was shown as 82.95% C allele and 17.83% T allele and 56.67%, 43.33% for C, and T allele in controls correspondingly. Our resultsindicate a possible association and suggest that MTHFR C677T polymorphism can be used as a potential biomarker for PCOS progress in the South Indian women.

中文翻译：

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亚甲基四氢叶酸还原酶C677T基因多态性与南印度人队列多囊卵巢综合征的关系

多囊卵巢综合征是女性最常见的内分泌病状态。它与生殖和代谢疾病有关。与卵巢滤泡作用相关的MTHFR基因编码在叶酸代谢中缠结的5- MTHFR（亚甲基四氢叶酸还原酶）酶。MTHFR基因C677T多态性降低了酶的活性，从而降低了叶酸的缺乏并增加了同型半胱氨酸的水平，从而影响了卵母细胞的进程。在这里，我们评估了MTHFR的关联基因C677T基因多态性与多囊卵巢综合征（PCOS）在南印度队列妇女。研究了约129名遵循鹿特丹标准的PCOS妇女和90名女性对照。在这项研究中，对所有PCOS妇女进行了PCR-RFLP技术。检测到PCOS患者的激素水平存在差异。发现MTHFR基因多态性CC，CT，TT基因型分别为74、16、9.30％。但是，在对照组中，分别为44.4％，24％和31％。在患者和对照之间的基因型频率分布中检测到显着差异。同样，在对照中，等位基因频率分别显示为82.95％C等位基因和17.83％T等位基因，C和T等位基因分别为56.67％，43.33％。我们的结果表明可能存在关联，并暗示MTHFR C677T多态性可以用作南印度妇女PCOS进展的潜在生物标志物。