Key Laboratory for Biotechnology on Medicinal Plants of Jiangsu Province, School of Life Science, Jiangsu Normal University, Xuzhou 221116, P.R. China.
Department of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai 200032, P.R. China.
Biosci Rep. 2017 Oct 6;37(5). doi: 10.1042/BSR20170713. Print 2017 Oct 31.
This case-control study investigated the association of transforming growth factor-β (TGF-β) receptor type I and II ( and ) gene polymorphisms with the risk of hypospadias in a Chinese population. One hundred and sixty two patients suffering from hypospadias were enrolled as case group and 165 children who underwent circumcision were recruited as control group. Single nucleotide polymorphisms (SNPs) in and genes were selected on the basis of genetic data obtained from HapMap. PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to identify TGFBR1 and TGFBR2 gene polymorphisms and analyze genotype distribution and allele frequency. Logistic regression analysis was conducted to estimate the risk factors for hypospadias. No significant difference was found concerning the genotype and allele frequencies of TGFBR1 rs4743325 polymorphism between the case and control groups. However, genotype and allele frequencies of TGFBR2 rs6785358 in the case group were significantly different in contrast with those in the control group. Patients carrying the G allele of TGFBR2 rs6785358 polymorphism exhibited a higher risk of hypospadias compared with the patients carrying the A allele (<0.05). The TGFBR2 rs6785358 genotype was found to be significantly related to abnormal pregnancy and preterm birth (both <0.05). The frequency of TGFBR2 rs6785358 GG genotype exhibited significant differences amongst patients suffering from four different pathological types of hypospadias. Logistic regression analysis revealed that preterm birth, abnormal pregnancy, and TGFBR2 rs6785358 were the independent risk factors for hypospadias. Our study provides evidence that TGFBR2 rs6785358 polymorphism might be associated with the risk of hypospadias.
这项病例对照研究调查了转化生长因子-β（TGF-β）受体 I 型和 II 型（和）基因多态性与中国人群中尿道下裂风险的关系。162 例尿道下裂患者作为病例组，165 例接受包皮环切术的儿童作为对照组。基于 HapMap 获得的遗传数据，选择和基因中的单核苷酸多态性（SNP）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）鉴定 TGFBR1 和 TGFBR2 基因多态性，并分析基因型分布和等位基因频率。采用 logistic 回归分析估计尿道下裂的危险因素。病例组和对照组之间 TGFBR1 rs4743325 多态性的基因型和等位基因频率无显著差异。然而，病例组 TGFBR2 rs6785358 的基因型和等位基因频率与对照组相比存在显著差异。与携带 TGFBR2 rs6785358 A 等位基因的患者相比，携带 G 等位基因的患者尿道下裂的风险更高（<0.05）。TGFBR2 rs6785358 基因型与异常妊娠和早产显著相关（均<0.05）。患有四种不同病理类型尿道下裂的患者 TGFBR2 rs6785358 GG 基因型的频率存在显著差异。logistic 回归分析显示，早产、异常妊娠和 TGFBR2 rs6785358 是尿道下裂的独立危险因素。本研究提供的证据表明，TGFBR2 rs6785358 多态性可能与尿道下裂的风险相关。
