• PMID: 16123080
• Gene Name: DAZL
• Condition: Male infertility
• Association: Associated
• Mutation: DAZL (T54A, T12A)
• Population size: 365
• Population details: 365 (234 patients with azoospermia or oligozoospermia, 131 fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZL
• Other associated phenotypes: Male infertility

Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility

Yang XJ, Shinka T, Nozawa S, Yan HT, Yoshiike M, Umeno M, Sato Y, Chen G, Iwamoto T, Nakahori Y.

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. FAU - Yang, Xin-Jun AU - Yang XJ AD - Department of Human Genetics and Public Health, Graduate School of Medical Science, University of Tokushima, Tokushima-City, Japan. FAU - Shinka, Toshikatsu AU - Shinka T FAU - Nozawa, Shiari AU - Nozawa S FAU - Yan, Hong-Tao AU - Yan HT FAU - Yoshiike, Miki AU - Yoshiike M FAU - Umeno, Mayumi AU - Umeno M FAU - Sato, Youichi AU - Sato Y FAU - Chen, Gang AU - Chen G FAU - Iwamoto, Teruaki AU - Iwamoto T