Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration

Ningning Hou; Songchang Chen; Feng Chen; Minmin Jiang; Junyu Zhang; Yanmei Yang; Bo Zhu; Xiaoxia Bai; Yuting Hu; Hefeng Huang; Chenming Xu

doi:10.1016/j.rbmo.2016.01.009

Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration

Reprod Biomed Online. 2016 Apr;32(4):407-13. doi: 10.1016/j.rbmo.2016.01.009. Epub 2016 Jan 29.

Authors

Ningning Hou¹, Songchang Chen², Feng Chen¹, Minmin Jiang³, Junyu Zhang⁴, Yanmei Yang¹, Bo Zhu⁵, Xiaoxia Bai⁵, Yuting Hu⁴, Hefeng Huang⁶, Chenming Xu⁷

Affiliations

¹ Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou 310006, China; Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
² Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou 310006, China; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
³ Institute of Public Administration, Zhejiang Normal University, Hangzhou 310012, China.
⁴ International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China.
⁵ Women's Hospital, School of Medicine, Zhejiang University, Hangzhou 310006, China.
⁶ Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou 310006, China; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China. Electronic address: huanghefg@sjtu.edu.cn.
⁷ Key Laboratory of Reproductive Genetics, Ministry of Education (Zhejiang University), Hangzhou 310006, China; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China. Electronic address: chenming_xu2006@163.com.

PMID: 26874989
DOI: 10.1016/j.rbmo.2016.01.009

Abstract

This study investigated the association between premature ovarian failure (POF), MTHFR C677T/A1298C and MTRR A66G genotypes and serum homocysteine (Hcy) concentration. A prospective study was conducted in Chinese women, which included POF patients (n = 180) and controls (n = 195). Peripheral blood samples were used to determine MTHFR C677T/A1298C and MTRR A66G genotypes, and serum Hcy and sex hormone concentrations. Results showed that serum Hcy concentrations of POF patients were significantly higher than those of controls (P < 0.0001). In POF patients, serum Hcy concentrations were significantly correlated with oestradiol and FSH concentrations (r = -0.174, P = 0.037 and r = +0.238, P = 0.006, respectively). There were no significant differences in the distributions of MTHFR C677T/A1298C or MTRR A66G genotypes between the two groups. However, these genetic variants influenced serum Hcy concentrations in POF patients, especially for MTRR 66 AA/AG/GG genotypes, which were significantly correlated with the patients' Hcy concentrations (τ = 0.166, P = 0.033). These results suggest that serum Hcy concentrations in Chinese POF patients are increased and correlated with serum oestradiol/FSH concentrations. In conclusion, MTHFR C667T/A1298C and MTRR A66G genotypes are not associated with POF development, but they affect the patients' serum Hcy concentrations.

Keywords: MTHFR; MTRR; gene polymorphism; homocysteine; premature ovarian failure.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Estradiol / blood
Female
Ferredoxin-NADP Reductase / genetics*
Follicle Stimulating Hormone / blood
Genetic Association Studies
Genotype
Homocysteine / blood*
Humans
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Genetic*
Primary Ovarian Insufficiency / genetics*
Prospective Studies

Substances

Homocysteine
Estradiol
Follicle Stimulating Hormone
methionine synthase reductase
Ferredoxin-NADP Reductase
MTHFR protein, human
Methylenetetrahydrofolate Reductase (NADPH2)