• PMID: 18616887
• Gene Name: ERCC2
• Condition: Idiopathic azoospermia
• Association: It was found that the ERCC1 8092 CA + AA genotypes were significantly associated with an increased risk of idiopathic azoospermia, while other polymorphisms appeared to show no significant differences between cases and controls. Further studies are neede
• Mutation: ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A), ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C)
• Population size: 389
• Population details: 389 (202 infertile patients with idiopathic azoospermia, 187 fertile controls)
• Sex: Male
• Infertility type: Male infertilityz
• Associated genes: ERCC1, ERCC2
• Other associated phenotypes: Idiopathic azoospermia

ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population

Ji G, Gu A, Xia Y, Lu C, Liang J, Wang S, Ma J, Peng Y, Wang X.

The ERCC1 (excision repair cross complementation group 1) and ERCC2 (excision repair cross complementation group 2) genes are important in repairing DNA damage and genomic instability in germ cells, and are essential for normal spermatogenesis. It has been verified that polymorphisms of these two genes could alter DNA repair capacity in some phenotypic studies. However, little information is available on these polymorphisms in male infertility. This study was designed to examine whether ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A) and ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C), which have been reported to contribute to some cancers, are associated with idiopathic azoospermia in the Chinese population. The four polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism assay in a hospital-based case-control study, comprising 202 infertile patients with idiopathic azoospermia and 187 fertile controls. It was found that the ERCC1 8092 CA + AA genotypes were significantly associated with an increased risk of idiopathic azoospermia (OR = 1.750, 95% CI = 1.170-2.618), while other polymorphisms appeared to show no significant differences between cases and controls. Further studies are needed to confirm the roles of these polymorphisms in idiopathic azoospermia. FAU - Ji, Guixiang AU - Ji G AD - Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China. FAU - Gu, Aihua AU - Gu A FAU - Xia, Yankai AU - Xia Y FAU - Lu, Chuncheng AU - Lu C FAU - Liang, Jie AU - Liang J FAU - Wang, Shoulin AU - Wang S FAU - Ma, Jun AU - Ma J FAU - Peng, Yuzhu AU - Peng Y