title: Susceptibility to male infertility: replication study in Japanese men looking for an association with four GWAS-derived loci identified in European men.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata, 951-8510, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Chihara
authors.forename: Kosuke
authors.initials: K
authors.lastname: Yoshihara
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Ishiguro
authors.forename: Yuki
authors.initials: Y
authors.lastname: Yokota
authors.forename: Sosuke
authors.initials: S
authors.lastname: Adachi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Okada
authors.forename: Katsunori
authors.initials: K
authors.lastname: Kashima
authors.forename: Takaaki
authors.initials: T
authors.lastname: Sato
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tanaka
authors.forename: Kenichi
authors.initials: K
authors.lastname: Tanaka
authors.forename: Takayuki
authors.initials: T
authors.lastname: Enomoto
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018035:Receptors, Odorant / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: C000601325:OR2W3 protein, human; D018035:Receptors, Odorant
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