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PMID 25578539
Gene Name MTR
Condition Male infertility, azoospermia, oligozoospermia
Association There is no evidence for an association between male infertility and polymorphism of the three folate-related enzyme genes in the Chinese population.
Mutation MTHFR C677T and A1298C, MTR A2756G and MTRR A66G
Population size 500
Population details 500 (296 idiopathic infertile males with azoospermia or oligozoospermia, 204 fertile males)
Sex Male
Infertility type Male infertility
Associated genes MTHFR, MTR , MTRR
Other associated phenotypes Male infertility, azoospermia, oligozoospermia


Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

Ni W, Li H, Wu A, Zhang P, Yang H, Yang X, Huang X, Jiang L.

PURPOSE: This study explored the possible association of four single nucleotide polymorphisms (SNPs) of the three folate-related enzyme genes: MTHFR C677T and A1298C, MTR A2756G and MTRR A66G, with male infertility in the Chinese population. METHODS: The polymorphic distributions of the four SNPs (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) were investigated by the method of SNaPshot in a Chinese cohort including 296 idiopathic infertile males with azoospermia or oligozoospermia and 204 fertile males. RESULTS: We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. CONCLUSIONS: There is no evidence for an association between male infertility and polymorphism of the three folate-related enzyme genes in the Chinese population. FAU - Ni, Wuhua AU - Ni W AD - Reproductive Medicine Center, The First Affiliated Hospital of Wenzhou Medical College, Wenzhou, Zhejiang, 325000, China. FAU - Li, Haiyan AU - Li H FAU - Wu, Aihua AU - Wu A FAU - Zhang, Peili AU - Zhang P FAU - Yang, Haiyan AU - Yang H FAU - Yang, Xu AU - Yang X FAU - Huang, Xuefeng AU - Huang X