Su Min, Li Zhi-Long, Song Ya-Ping, Wang Yan-Yun, Zhou Bin, Li Qin
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2022 Jul;53(4):642-648. doi: 10.12182/20220760209.
To conduct preliminary investigation into the correlation between transforming growth factor beta-activated protein kinase 1-binding protein 2 ( 2) gene and the incidence of cryptorchidism in Han Chinese population in Southwest China.
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 2 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.
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%, =0.04, =1.31, 95% : 1.01-1.70). In the dominant model, the risk of cryptorchidism was significantly higher in AG/GG genotype carriers ( =0.006, 1.57, 95% : 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%, =0.03, 1.50, 95% : 1.05-2.14). Correlation between rs521845 and susceptibility to cryptorchidism was not observed in the Han Chinese population.
The AG/GG genotype of rs237028 locus and the TC/CC genotype of rs652921 locus of the 2 gene may be associated with increased risks of cryptorchidism in Han Chinese population in southwest China.
对转化生长因子β激活蛋白激酶1结合蛋白2（TAB2）基因与中国西南地区汉族人群隐睾症发病率之间的相关性进行初步研究。
纳入中国西南地区259例隐睾症患者和355例健康对照者进行研究。采用聚合酶链反应-限制性片段长度多态性方法分析TAB2基因3个标签单核苷酸多态性（SNP），即rs237028、rs521845和rs652921的基因型。采用卡方检验分析3个标签SNP的基因型频率与隐睾症发病率之间的关系。
3个标签SNP的等位基因和基因型分布符合Hardy-Weinberg平衡，聚合酶链反应-限制性片段长度多态性检测的基因型结果与桑格测序结果一致。隐睾症组TAB2 rs237028位点G等位基因频率显著高于对照组（30.9%对25.6%，P=0.04，OR=1.31，95%CI：1.01-1.70）。显性模型中，AG/GG基因型携带者患隐睾症的风险显著更高（P=0.006，OR=1.57，95%CI：1.14-2.17）。隐睾症组rs652921位点的TC/CC基因型频率显著高于对照组（75.3%对67.0%，P=0.03，OR=1.50，95%CI：1.05-2.14）。在中国汉族人群中未观察到rs521845与隐睾症易感性之间的相关性。
TAB2基因rs237028位点的AG/GG基因型和rs652921位点的TC/CC基因型可能与中国西南地区汉族人群隐睾症风险增加有关。
