TAB2基因多态性与中国西南汉族人群隐睾症易感性的相关性研究

Association Between TAB2 Gene Polymorphisms and Susceptibility to Cryptorchidism in Han Chinese Population in Southwest China

目的初步探讨TAB2(transforming growth factor-beta activated kinase 1 binding protein 2)基因与中国西南地区汉族人群隐睾症发病的相关性。方法选取西南地区259名隐睾患者和355名成年男性健康对照,采用聚合酶链式反应-限制性片段长度多态性分析方法,对TAB2基因的3个标签单核苷酸多态性位点(tag single nucleotide polymorphism,tag SNP)rs237028、rs521845、rs652921进行基因分型,并采用卡方检验分析3个tag SNP位点与隐睾症发病的关系。结果本实验的3个tag SNP位点基因型频率分布均符合Hardy-Weinberg平衡,限制性酶切实验分型结果与Sanger测序结果一致。TAB2 rs237028位点的G等位基因在隐睾组中的频率高于对照组(30.9%vs.25.6%,P=0.04,OR=1.31,95%CI:1.01~1.70),在显性遗传模型中AG/GG基因型携带者罹患隐睾症的风险升高(P=0.006,OR=1.57,95%CI:1.14~2.17)。在隐睾组中rs652921位点的TC/CC基因型频率高于对照组,差异有统计学意义(75.3%vs.67.0%,P=0.03;OR=1.50,95%CI:1.05~2.14)。未观察到rs521845与中国人群隐睾遗传易感性的相关性。结论TAB2基因rs237028的AG/GG基因型和rs652921的TC/CC基因型可能与中国西南地区汉族人群罹患隐睾症的风险性增加相关。

Objective To conduct preliminary investigation into the correlation between transforming growth factor beta-activated protein kinase 1-binding protein 2(TAB2)gene and the incidence of cryptorchidism in Han Chinese population in Southwest China.Methods A total of 259 patients with cryptorchidism and 355 healthy controls from Southwest China were enrolled for the study.Polymerase chain reaction-restriction fragment length polymorphism method was used to analyze the genotype of the 3 tag single nucleotide polymorphisms(SNPs)of TAB2 gene,i.e.,rs237028,rs521845 and rs652921.The Chi-square test was used to analyze the relationship between the genotype frequency of the three tag SNPs and the incidence of cryptorchidism.Results The distribution of the 3 tag SNPs’alleles and genotypes were in agreement with the Hardy-Weinberg equilibrium,and the genotype results of polymerase chain reaction-restriction fragment length polymorphism assay were consistent with those of Sanger sequencing.The frequency of the G allele at TAB 2 rs237028 was significantly higher in the cryptorchidism group than that in the control group(30.9%vs.25.6%,P=0.04,OR=1.31,95%CI:1.01-1.70).In the dominant model,the risk of cryptorchidism was significantly higher in AG/GG genotype carriers(P=0.006,OR=1.57,95%CI:1.14-2.17).In the cryptorchidism group,the TC/CC genotype frequency of the rs652921 locus were significantly higher than that of the control group(75.3%vs.67.0%,P=0.03,OR=1.50,95%CI:1.05-2.14).Correlation between rs521845 and susceptibility to cryptorchidism was not observed in the Han Chinese population.Conclusion The AG/GG genotype of rs237028 locus and the TC/CC genotype of rs652921 locus of the TAB2 gene may be associated with increased risks of cryptorchidism in Han Chinese population in southwest China.