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目的探讨心脏转录因子Nkx2.5、GATA4和TBX5基因多态性与广西壮族、汉族儿童室间隔缺损(VSD)遗传易感性的关系。方法采用以医院为基础的病例对照研究方法,选取2011年2月-2015年4月于广西医科大学第一附属医院新入院的儿童为研究对象,广西壮族、汉族VSD儿童158例为VSD组,非心脏相关疾病患者234例为对照组,以年龄、性别和民族对两组进行频数匹配。采用TaqMan-MGB高通量实时荧光定量聚合酶链式反应(RT-PCR)法对筛选出的Nkx2.5、GATA4和TBX5基因8个位点进行基因分型。用χ~2检验和多因素Logistic回归模型分析相应位点单核苷酸多态性(SNP)与VSD遗传易感性的关系。结果 rs883079位点基因型CT/TT在两组间分布差异有统计学意义(P<0.05)。分层分析结果显示,携带SNP位点rs883079突变等位基因T的汉族男童能降低VSD的发病风险(P<0.05)。结论 TBX5基因SNP位点rs883079与广西壮族、汉族儿童VSD遗传易感性相关。
Objective To investigate the relationship between genetic polymorphisms of cardiac transcription factors Nkx2.5, GATA4 and TBX5 and genetic susceptibility to ventricular septal defect (VSD) in children of Zhuang and Han nationalities in Guangxi province. Methods A hospital-based case-control study was conducted in this study. From February 2011 to April 2015, new children admitted to the First Affiliated Hospital of Guangxi Medical University were selected as the research objects. 158 children from the Zhuang and Han Chinese were randomly divided into the VSD group, 234 patients with non-heart-related diseases as control group, frequency matching of the two groups by age, gender and ethnicity. Eight sites of Nkx2.5, GATA4 and TBX5 genes were genotyped by TaqMan-MGB high-throughput real-time quantitative polymerase chain reaction (RT-PCR). Χ ~ 2 test and multivariate logistic regression model were used to analyze the relationship between SNP and genetic susceptibility to VSD. Results The distribution of rs883079 genotype CT / TT in the two groups was statistically significant (P <0.05). Hierarchical analysis showed that Han boys with SNP rs883079 mutation allele T could reduce the risk of VSD (P <0.05). Conclusion The SNP rs883079 of TBX5 gene is associated with the genetic susceptibility to VSD in Guangxi Zhuang and Han children.