Sun Liquan, Zhou Mei, Liu Tao
Pharmazie. 2019 Feb 1;74(2):125-128. doi: 10.1691/ph.2019.8768.
Steroid 5a-reductase type-2 () has been reported to be associated with hypospadias, but the available results are not consistent across studies. Therefore, we conducted a comprehensive meta-analysis to systematically review the association between gene polymorphisms and hypospadias. Public databases PubMed and Embase were searched before March 1, 2016. Hardy-Weinberg equilibrium (HWE) tests were performed to identify genotypic distribution of single-nucleotide polymorphisms (SNPs) in samples. Among the distribution, we only performed analyses for one SNP (rs523349). The stability of the results was evaluated by sensitivity analysis. Additionally, Egger's test was performed to test a potential publication bias. A total of 6 studies were enrolled. The genotype frequencies were almost consistent with HWE. There were significant differences among gene polymorphisms and the gene models of rs523349. The results of sensitivity analysis revealed that the results were not unduly influenced by any one study. There was a publication bias in mutational homozygote vs. Wild type homozygote (t = 5.4207, = 0.0002) or wild type homozygote vs. heterozygote + wild type homozygote (t = 5.2649, = 0.0002), but no evidence of publication bias was found in other models. is associated with hypospadias, and gene polymorphisms might be one of risk factors of hypospadias.
据报道，2型类固醇5α-还原酶（）与尿道下裂有关，但各研究的现有结果并不一致。因此，我们进行了一项全面的荟萃分析，以系统地综述基因多态性与尿道下裂之间的关联。在2016年3月1日前检索了公共数据库PubMed和Embase。进行哈迪-温伯格平衡（HWE）检验以确定样本中单核苷酸多态性（SNP）的基因型分布。在该分布中，我们仅对一个SNP（rs523349）进行了分析。通过敏感性分析评估结果的稳定性。此外，进行了Egger检验以检测潜在的发表偏倚。共纳入6项研究。基因型频率几乎与HWE一致。基因多态性与rs523349的基因模型之间存在显著差异。敏感性分析结果显示，结果未受到任何一项研究的过度影响。在突变纯合子与野生型纯合子（t = 5.4207，= 0.0002）或野生型纯合子与杂合子+野生型纯合子（t = 5.2649，= 0.0002）之间存在发表偏倚，但在其他模型中未发现发表偏倚的证据。与尿道下裂有关联，且基因多态性可能是尿道下裂的危险因素之一。
