Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women
| العنوان: | Association of three missense mutations in the homocysteine-related MTHFR and MTRR gene with risk of polycystic ovary syndrome in Southern Chinese women |
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| المؤلفون: | Ying Ma, Yuan Pan, Yan Zhang, Dan Tian, Min-Juan Liu, Lixia Yang, Yi Zhang, Wenyu Mo, Junjie Jiao, Wan-Qin Feng, Xiaoyang Wang, Yuxin Huang, Yuanling Xiao |
| المصدر: | Reproductive Biology and Endocrinology, Vol 19, Iss 1, Pp 1-7 (2021) Reproductive Biology and Endocrinology : RB&E |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | endocrine system diseases, Folic acid, Homocysteine, MTRR, Linkage Disequilibrium, chemistry.chemical_compound, Endocrinology, Gene Frequency, Risk Factors, lcsh:Reproduction, Medicine, Missense mutation, Polycystic ovary syndrome, biology, Obstetrics and Gynecology, Polycystic ovary, female genital diseases and pregnancy complications, Ferredoxin-NADP Reductase, Female, Adult, China, medicine.medical_specialty, Genotype, lcsh:QH471-489, Mutation, Missense, Polymorphism, Single Nucleotide, lcsh:Gynecology and obstetrics, Young Adult, Asian People, Internal medicine, Humans, Genetic Predisposition to Disease, Gene, Methylenetetrahydrofolate Reductase (NADPH2), lcsh:RG1-991, business.industry, Research, (Methionine synthase) reductase, digestive system diseases, Reproductive Medicine, chemistry, Case-Control Studies, Methylenetetrahydrofolate reductase, MTHFR, biology.protein, Etiology, business, Developmental Biology |
| الوصف: | Background 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. Methods A case-control study was designed, comprising 150 people with PCOS and 300 controls. Logistic regression analysis was used to assess the association between the three missense mutations and PCOS. Linear regression analysis was used to assess the association between the three missense mutations and the homocysteine level. Mediation analysis was used to investigate whether the three missense mutations exerted their effect on PCOS by affecting the homocysteine level. Results Following adjustments and multiple rounds of testing, MTHFR A1298C was found to be significantly associated with PCOS in a dose-dependent manner (compared to AA, OR = 2.142 for AC & OR = 3.755 for CC; P MTRR A66G was nominally associated with PCOS. Mutations in MTHFR A1298C and MTRR A66G were significantly associated with the homocysteine level. Mediation analysis suggested the effect of MTHFR A1298C on PCOS was mediated by homocysteine. Conclusions MTHFR A1298C and MTRR A66G were associated with PCOS, and MTHFR A1298C might affect the risk of PCOS by influencing the homocysteine level. |
| تدمد: | 1477-7827 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dadc0a049806462ef421094bb47350ee https://doi.org/10.1186/s12958-020-00688-8 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....dadc0a049806462ef421094bb47350ee |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14777827 |
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