• PMID: 26549413
• Gene Name: MTRR
• Condition: Male infertility, azoospermia, oligoasthenoteratozoospermia
• Association: Men carrying the MTHFR TC haplotype were most liable to suffer infertility while those with CC haplotype had lowest risk. On the other hand, the MTHFR A1298C mutation was not related to male infertility. MTR A2756G and MTRR A66G were potential candidates
• Mutation: MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G mutations and the MTHFR haplotype
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MTHFR, MTR, MTRR
• Other associated phenotypes: Male infertility, azoospermia, oligoasthenoteratozoospermia

Role of genetic mutations in folate-related enzyme genes on Male Infertility

Liu K, Zhao R, Shen M, Ye J, Li X, Huang Y, Hua L, Wang Z, Li J.

Several studies showed that the genetic mutations in the folate-related enzyme genes might be associated with male infertility; however, the results were still inconsistent. We performed a meta-analysis with trial sequential analysis to investigate the associations between the MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G mutations and the MTHFR haplotype with the risk of male infertility. Overall, a total of 37 studies were selected. Our meta-analysis showed that the MTHFR C677T mutation was a risk factor for male infertility in both azoospermia and oligoasthenoteratozoospermia patients, especially in Asian population. Men carrying the MTHFR TC haplotype were most liable to suffer infertility while those with CC haplotype had lowest risk. On the other hand, the MTHFR A1298C mutation was not related to male infertility. MTR A2756G and MTRR A66G were potential candidates in the pathogenesis of male infertility, but more case-control studies were required to avoid false-positive outcomes. All of these results were confirmed by the trial sequential analysis. Finally, our meta-analysis with trial sequential analysis proved that the genetic mutations in the folate-related enzyme genes played a significant role in male infertility. FAU - Liu, Kang AU - Liu K AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Zhao, Ruizhe AU - Zhao R AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Shen, Min AU - Shen M AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Ye, Jiaxin AU - Ye J AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Li, Xiao AU - Li X AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Huang, Yuan AU - Huang Y AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Hua, Lixin AU - Hua L AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. FAU - Wang, Zengjun AU - Wang Z AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.