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 PMID:33407572  

Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women.

Wanqin Feng | Yan Zhang | Yuan Pan | Yi Zhang | Minjuan Liu | Yuxin Huang | Yuanling Xiao | Wenyu Mo | Junjie Jiao | Xiaoyang Wang | Dan Tian | Lixia Yang | Ying Ma
Reproductive biology and endocrinology : RB&E | 2021

The etiology between homocysteine and polycystic ovary syndrome (PCOS) is unclear. In humans, the level of homocysteine is mainly affected by two enzymes: methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR). While the activity of these two enzymes is mainly affected by three missense mutations, namely C677T (MTHFR), A1298C (MTHFR), and A66G (MTRR). This study aims to examine the association between the three missense mutations and PCOS and investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level.

Pubmed ID: 33407572

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HARDY (tool)

RRID:SCR_009107

Markov chain Monte Carlo program for association in two-dimensional contingency tables, and for testing Hardy-Weinberg equilibrium. (entry from Genetic Analysis Software)

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