title: Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility.
abstract: The DAZL (DAZ-like) gene is suggested to be an ancestral gene of the DAZ (deleted in azoospermia) gene on the Y chromosome, which is a strong candidate for the azoospermic factor. Recently, it has been reported that the T54A (Thr54-->Ala) polymorphism in exon 3 of the DAZL gene is associated with spermatogenic failure in the Taiwanese population. In this study, to investigate whether this polymorphism is associated with spermatogenic failure in Japanese males, we analysed genomic DNA derived from 234 patients with azoospermia or oligozoospermia and 131 fertile controls. The T54A polymorphism was completely absent in both the patients and the controls. The T12A (Thr12-->Ala) polymorphism in exon 2 of the DAZL gene was found at a similar frequency in the patients and controls, 15.4% and 13.7%, respectively (P = 0.67). However, the frequency of T12A was higher for the azoospermic (20.5%) than oligozoospermic (9.6%) individuals in infertile men without DAZ deletions, although statistical difference was not so apparent (chi2 test: P = 0.037, OR = 2.413, 95% CI = 1.035-5.629; Yate's chi2 test: P = 0.058, OR = 2.319, 95% CI = 0.973-6.166). Our results show that the T54A polymorphism in DAZL has no major role in Japanese males with azoospermia or oligozoospermia. The distribution of the T54A polymorphism may be restricted to the narrow area including Taiwan.
authors.affiliation: Department of Human Genetics and Public Health, Graduate School of Medical Science, University of Tokushima, Tokushima-City, Japan.
authors.forename: Xin-Jun
authors.initials: XJ
authors.lastname: Yang
authors.forename: Toshikatsu
authors.initials: T
authors.lastname: Shinka
authors.forename: Shiari
authors.initials: S
authors.lastname: Nozawa
authors.forename: Hong-Tao
authors.initials: HT
authors.lastname: Yan
authors.forename: Miki
authors.initials: M
authors.lastname: Yoshiike
authors.forename: Mayumi
authors.initials: M
authors.lastname: Umeno
authors.forename: Youichi
authors.initials: Y
authors.lastname: Sato
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.forename: Teruaki
authors.initials: T
authors.lastname: Iwamoto
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nakahori
mesh_terms: D000328:Adult; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C101358:DAZL protein, human; D016601:RNA-Binding Proteins