• PMID: 25847845
• Gene Name: OR2W3
• Condition: Male infertility, Azoospermia, Oligozoospermia
• Association: The four SNPs previously identified in European men showed no significant association with collective male infertility in our Japanese cohort. However, allele frequency analysis did indicate a significantly higher frequency of the rs11204546 C allele of t
• Mutation: (rs5911500, rs10246939, rs2059807, and rs11204546
• Population size: 886
• Population details: 886 (517 Japanese patients with male infertility, 369 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, Azoospermia, Oligozoospermia

Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men

Chihara M, Yoshihara K, Ishiguro T, Yokota Y, Adachi S, Okada H, Kashima K, Sato T, Tanaka A, Tanaka K, Enomoto T.

PURPOSE: A previous genome-wide association study in European men identified four single nucleotide polymorphism (SNP) loci associated with male infertility. Our aim was to replicate, if possible, the association of these SNPs with Japanese male infertility. METHODS: We genotyped four SNPs (rs5911500, rs10246939, rs2059807, and rs11204546) in 517 Japanese patients with male infertility and 369 fertile controls using SNP-specific real-time polymerase chain reaction TaqMan assays. Subsequently, we divided patients with male infertility into azoospermia (n = 417) and oligospermia subgroups (n = 70). RESULTS: The four SNPs previously identified in European men showed no significant association with collective male infertility in our Japanese cohort. However, allele frequency analysis did indicate a significantly higher frequency of the rs11204546 C allele of the OR2W3 gene in the oligospermia subset of infertility patients compared with controls (p = 0.0037; odds ratio = 1.74; 95 % confidence interval, 1.21-2.53). CONCLUSIONS: Although this study was somewhat limited by overall sample size, the OR2W3 gene polymorphism rs11204546 was significantly associated with oligospermia in Japanese men, suggesting that OR2W3 might be involved in genetic susceptibility to Japanese male infertility as well as in European males. FAU - Chihara, Makoto AU - Chihara M AD - Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata, 951-8510, Japan. FAU - Yoshihara, Kosuke AU - Yoshihara K FAU - Ishiguro, Tatsuya AU - Ishiguro T FAU - Yokota, Yuki AU - Yokota Y FAU - Adachi, Sosuke AU - Adachi S FAU - Okada, Hiroyuki AU - Okada H FAU - Kashima, Katsunori AU - Kashima K FAU - Sato, Takaaki AU - Sato T FAU - Tanaka, Atsushi AU - Tanaka A FAU - Tanaka, Kenichi AU - Tanaka K