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Abstract：
This case-control study investigated the association of transforming growth factor-β (TGF-β) receptor type I and II (TGFBR1 and TGFBR2) 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 TGFBR1 and TGFBR2 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 (P<0.05). The TGFBR2 rs6785358 genotype was found to be significantly related to abnormal pregnancy and preterm birth (both P<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.
摘要：
这项病例对照研究调查了转化生长因子-β（TGF-β）I型和II型受体（TGFBR1和TGFBR2）基因多态性与中国人群尿道下裂风险的关系。以162例尿道下裂患者为病例组，以165例接受包皮环切术的儿童为对照组。根据从HapMap获得的遗传数据选择TGFBR1和TGFBR2基因中的单核苷酸多态性（SNP）。进行PCR限制性片段长度多态性（PCR-RFLP）以鉴定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回归分析评估尿道下裂的危险因素。关于TGFBR1rs4743325多态性的基因型和等位基因频率，在病例组和对照组之间没有发现显着差异。然而,病例组TGFBR2rs6785358的基因型和等位基因频率与对照组相比有显著差异。携带TGFBR2rs6785358多态性G等位基因的患者与携带A等位基因的患者相比，尿道下裂的风险更高（P<0.05）。发现TGFBR2rs6785358基因型与异常妊娠和早产显著相关(均P<0.05)。TGFBR2rs6785358GG基因型的频率在患有四种不同病理类型尿道下裂的患者中表现出显着差异。Logistic回归分析显示,早产,异常妊娠,TGFBR2rs6785358是尿道下裂的独立危险因素。我们的研究提供了TGFBR2rs6785358多态性可能与尿道下裂的风险相关的证据。
