• PMID: 24908732
• Gene Name: ERCC2
• Condition: Male idiopathic infertility
• Association: The ERCC2 SNPs rs13181, rs1618536, and rs1799793 play a role of interaction in male idiopathic infertility in Ningxia, contributing to the risk of the disease.
• Mutation: rs13181, rs1618536, and rs1799793
• Population size: 678
• Population details: 678 (351 males with idiopathic infertility, 327 normal fertile men as controls.)
• Age: Patients: 31.0 +/- 4.2 years, Controls: 33.0 +/- 5.9 years
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male idiopathic infertility

[Relationship between ERCC2 single nucleotide polymorphisms and male idiopathic infertility in Ningxia]

Liu CL, Jiao HY, Ma Q, Wu X, Jia ST, Jing WH, Yang QH.

OBJECTIVE: To explore the influence of the DNA repair gene ERCC2 single nucleotide polymorphisms (SNPs) rs13181, rs1618536, and rs1799793 on male idiopathic infertility in Ningxia, China. METHODS: Using MassArray, we conducted a case-control study and genotyped three ERCC2 SNPs rs13181, rs1618536, and rs1799793 for 351 males (aged 31.0 +/- 4.2 years) with idiopathic infertility and another 327 normal fertile men (aged 33.0 +/- 5.9 years) as controls. RESULTS: The ERCC2 AnyG-anyA-anyA genotypes were significantly associated with an increased risk of idiopathic infertility (OR 0.414, 95% CI 0.176 - 0.970), while the three single ERCC2 SNPs rs13181, rs1618536, and rs1799793 showed no significant differences between the cases and controls (P > 0.05). CONCLUSION: The ERCC2 SNPs rs13181, rs1618536, and rs1799793 play a role of interaction in male idiopathic infertility in Ningxia, contributing to the risk of the disease. FAU - Liu, Chun-Lian AU - Liu CL FAU - Jiao, Hai-Yan AU - Jiao HY FAU - Ma, Qiang AU - Ma Q FAU - Wu, Xing AU - Wu X FAU - Jia, Shao-Tong AU - Jia ST FAU - Jing, Wan-hong AU - Jing WH