Huang Fuhua, Li Li, Shen Chong, Wang Hairu, Chen Jinfeng, Chen Wen, Chen Xin
Department of Thoracic and Cardiovascular Surgery, Nanjing First Hospital Affiliated to Nanjing Medical University, Nanjing 210006..
Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 210029.China..
Nutr Hosp. 2014 Oct 31;31(2):710-5. doi: 10.3305/nh.2015.31.2.8232.
Transforming growth factor-β receptor II (TGFBR2) is a key component of TGF-β signaling pathway. TGFBR2 can be detected in the generation of heart. The mouse embryos of TGFBR2 gene knockout exhibited congenital heart defects.
We conducted a case-control study to investigate the association between TGFBR2 gene polymorphisms and congenital heart defects in Han Chinese population. 125 patients with congenital heart defects and 615 unrelated controls were recruited. Two tagging single nucleotide polymorphisms (tagSNPs) in 5' upstream of TGFBR2 gene (rs6785358, -3779A/G; rs764522, -1444C/ G) were selected and genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) assay.
A significant difference was seen in the distribution of genotypes between patients with congenital heart defects and controls for SNP rs6785358 (P=0.043). For SNP rs6785358 the carrier of the G allele (AG/GG genotype) showed a significantly higher risk of congenital heart defects compared with AA homozygotes (OR=1.545, 95% CI: 1.013-2.356). Further analysis by sex stratification indicated that individuals carrying G allele (AG/GG genotype) for SNP rs6785358 have a higher susceptibility to congenital heart defects (OR=2.088, 95%CI: 1.123-3.883, P=0.019) in males, but not females (OR=1.195, 95%CI: 0.666-2.146, P=0.55). No statistical significance was detected in the distribution of genotypes and allele frequencies for SNP rs764522 between patients and controls.
Our result suggested that SNP rs6785358 of TGFBR2 gene was associated with increased risk of congenital heart defects in Han Chinese men and further research would be warranted.
转化生长因子-β受体II（TGFBR2）是TGF-β信号通路的关键组成部分。在心脏发育过程中可检测到TGFBR2。TGFBR2基因敲除的小鼠胚胎表现出先天性心脏缺陷。
我们进行了一项病例对照研究，以调查汉族人群中TGFBR2基因多态性与先天性心脏缺陷之间的关联。招募了125例先天性心脏缺陷患者和615名无关对照。选择TGFBR2基因5'上游的两个标签单核苷酸多态性（tagSNPs）（rs6785358，-3779A/G；rs764522，-1444C/G），并通过聚合酶链反应（PCR）-限制性片段长度多态性（RFLP）分析进行基因分型。
对于SNP rs6785358，先天性心脏缺陷患者与对照组之间的基因型分布存在显著差异（P = 0.043）。对于SNP rs6785358，与AA纯合子相比，G等位基因携带者（AG/GG基因型）患先天性心脏缺陷的风险显著更高（OR = 1.545，95%CI：1.013 - 2.356）。按性别分层的进一步分析表明，男性中携带SNP rs6785358的G等位基因（AG/GG基因型）对先天性心脏缺陷的易感性更高（OR = 2.088，95%CI：1.123 - 3.883，P = 0.019），而女性则不然（OR = 1.195，95%CI：0.666 - 2.146，P = 0.55）。患者与对照组之间SNP rs764522的基因型和等位基因频率分布未检测到统计学意义。
我们的结果表明，TGFBR2基因的SNP rs6785358与汉族男性先天性心脏缺陷风险增加有关，并值得进一步研究。
