Zhang Simin, Tang Qiuqin, Wu Wei, Yuan Beilei, Lu Chuncheng, Xia Yankai, Ding Hongjuan, Hu Lingqing, Chen Daozhen, Sha Jiahao, Wang Xinru
1] State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 211166, China [2] Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing 211166, China [3] Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, China [4].
1] State Key Laboratory of Reproductive Medicine, Department of Obstetrics, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China [2].
Sci Rep. 2014 Apr 10;4:4642. doi: 10.1038/srep04642.
Several studies have investigated the association between polymorphisms in the Deleted in AZoospermia-Like (DAZL) gene and male infertility risk, but with inconsistent results. We aimed to derive a more precise estimation of the relationship, therefore a meta-analysis was performed. A total of 13 case-control studies, including 2556 cases and 1997 controls, were selected. Two polymorphisms in DAZL were investigated, namely T12A (Thr12 → Ala) and T54A (Thr54 → Ala). Our meta-analysis showed that A > G is a risk factor for male infertility (P = 0.047, OR = 1.262, 95%CI = 1.003-1.587). However, when using trial sequential analysis (TSA) to confirm, we found that A > G risk effect turned out to be false positive. In addition, significant association was found between the T54A polymorphism and male infertility under co-dominant model (AG vs. AA: OR = 4.364, 95%CI = 2.207-8.630, P < 0.001) and dominant model (OR = 4.584, 95%CI = 2.320-9.058, P < 0.001). Stratified analysis showed that significantly strong association between T54A polymorphism and male infertility was present only in Asians, but not in Caucasians. Further studies of T12A and T54A with their biological functions are needed to understand the role of these polymorphisms in the development of male infertility.
多项研究探讨了无精子症样缺失（DAZL）基因多态性与男性不育风险之间的关联，但结果并不一致。我们旨在更精确地估计二者关系，因此进行了一项荟萃分析。共选取了13项病例对照研究，包括2556例病例和1997例对照。对DAZL基因的两个多态性位点进行了研究，即T12A（苏氨酸12→丙氨酸）和T54A（苏氨酸54→丙氨酸）。我们的荟萃分析表明，A>G是男性不育的一个风险因素（P = 0.047，OR = 1.262，95%CI = 1.003 - 1.587）。然而，当使用序贯试验分析（TSA）进行验证时，我们发现A>G的风险效应结果为假阳性。此外，在共显性模型（AG vs. AA：OR = 4.364，95%CI = 2.207 - 8.630，P < 0.001）和显性模型（OR = 4.584，95%CI = 2.320 - 9.058，P < 0.001）下，发现T54A多态性与男性不育之间存在显著关联。分层分析表明，T54A多态性与男性不育之间的显著强关联仅在亚洲人中存在，而在白种人中不存在。需要进一步研究T12A和T54A的生物学功能，以了解这些多态性在男性不育发生发展中的作用。
