Association of FASL-844 polymorphism with the risk of idiopathic azoospermia and severe oligozoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the distribution of FASL-844 polymorphism in southern Chinese males of Han nationality and examine the contribution of the polymorphism to susceptibility of idiopathic azoospermia and oligozoospermia.</p><p><b>METHODS</b>FASL-844 polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP) in 184 infertile patients with idiopathic azoospermia or severe oligozoospermia 236 normal fertile male controls.</p><p><b>RESULTS</b>Frequencies of FASL-844 CT and TT genotypes of the patients were significantly different from those of the controls (P = 0.024; P = 0.008). Males with FASL-844 TT genotype had an increased risk of idiopathic azoospermia or severe oligozoospermia compared with those with CC genotype (OR 2.76, 95% CI: 1.20-6.35), and even a higher risk when compared with those with CC and CT genotypes (OR 2.90, 95% CI: 1.28-6.58).</p><p><b>CONCLUSION</b>FASL-844 polymorphism appears to be a genetic predisposing factor of idiopathic azoospermia or severe oligozoospermia among southern Chinese Han males.</p>

Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To assess the possible role of genetic polymorphisms in DNA repair gene XRCC1 (X-ray repair cross-complementing group 1) during spermatogenesis by investigating the associations of one promoter polymorphism (T-77C) and two exonic polymorphisms (Arg194Trp and Arg399Gln) in XRCC1 gene with risk of idiopathic azoospermia in a Chinese population.</p><p><b>METHODS</b>The genotype and allele frequencies of three observed polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism based on a Chinese population consisting of 171 idiopathic azoospermia subjects and 247 normal-spermatogenesis controls.</p><p><b>RESULTS</b>In our study, all the observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium. The 399A (GA+AA) allele frequency for idiopathic azoospermia subjects and controls was 0.216 and 0.269, respectively. Compared with GG genotype, the AA genotype of Arg399Gln showed a significant association with a decreased risk of idiopathic azoospermia (odds ratio = 0.315; 95% confidence interval = 0.12-0.86). However, no significant differences were found between the cases and controls for T-77C and Arg194Trp polymorphisms. The major haplotypes of XRCC1 gene were TCG, TTG and TCA, whereas no haplotypes appeared to be significantly associated with idiopathic azoospermia based on the cutoff of P < 0.05.</p><p><b>CONCLUSION</b>In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia.</p>