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目的探讨GLI1基因I495L和D933G多态性与先天性心脏病(CHD)的相关性。方法采用病例对照研究,选择180例CHD患儿[病例组,包括ASD37例、VSD65例及法洛四联症(TOF)78例]和200名健康体检儿童(健康对照组)。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)进行GLI1基因I495L和D933G位点多态性检测,分析上述2个多态位点基因型频率和等位基因频率在病例组和对照组的分布,比较各个位点不同基因型与CHD患病风险的关系。应用SPSS13.0软件进行统计学分析。结果 GLI1基因I495L多态位点基因型频率在VSD组、TOF组的分布与健康对照组比较差异有统计学意义(P=0.024,0.029),等位基因频率的分布亦存在统计学差异(P=0.015,0.004),且C等位基因携带者患VSD和TOF的风险高于A等位基因携带者(VSD:OR=1.658,95%CI1.101～2.496;TOF:OR=1.757,95%CI1.198～2.575);GLI1基因D933G多态位点基因型频率在VSD组、TOF组的分布与健康对照组比较存在统计学差异(P=0.015,0.018),等位基因频率的分布亦存在统计学差异(P=0.039,0.008),且G等位基因携带者患VSD和TOF的风险高于A等位基因携带者(VSD:OR=1.520,95%CI1.020～2.266;TOF:OR=1.654,95%CI1.137～2.406)。结论 GLI1基因I495L和D933G多态性与CHD具有明显的相关性,具有C、G等位基因的个体患CHD的风险增高。
Objective To investigate the association between GLI1 gene I495L and D933G polymorphisms and congenital heart disease (CHD). Methods A case-control study was conducted in 180 children with CHD (case group, including 37 ASDs, 65 VSDs and 78 TOFs) and 200 healthy children (healthy controls). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect GLI1 gene polymorphisms at I495L and D933G loci. The genotype frequency and allele frequency of the two polymorphic loci were analyzed in case group And control group, and to compare the different genotypes of each locus with the risk of CHD. Application SPSS13.0 software for statistical analysis. Results The genotype frequency of GL4 gene polymorphism was significantly different between VSD group and TOF group (P = 0.024,0.029), and the distribution of allele frequency was also significantly different (P = 0.015,0.004), and the carriers of C allele had higher risk of VSD and TOF than those of A allele (VSD: OR = 1.658, 95% CI 1.101-2.496; TOF: OR = 1.757, 95% CI1.198-2.575). The frequency of GLI1 D933G polymorphism loci in VSD group and TOF group was significantly higher than that in healthy control group (P = 0.015,0.018), and the distribution of allele frequency also existed (P = 0.039,0.008), and the risk of VSD and TOF in patients with G allele was higher than that in patients with A allele (VSD: OR = 1.520,95% CI1.020-2.266; TOF: OR = 1.654, 95% CI 1.137 ~ 2.406). Conclusion The polymorphisms of I495L and D933G of GLI1 gene are significantly associated with CHD. Individuals with C and G alleles have a higher risk of CHD.