CASP3基因R101H多态性与法洛四联症的相关性

Association between R101H Polymorphism of CASP3 Gene and Tetralogy of Fallot

目的探讨CASP3基因R101H多态性与法洛四联症(TOF)的相关性。方法选择TOF患儿112例(TOF组)。男69例,女43例;年龄(4.27±1.93)岁。同时选取200名健康体检儿童为健康对照组。男102例,女98例;年龄(5.68±2.17)岁。采用病例对照研究,应用PCR-限制性片段长度多态性(RFLP)进行CASP3基因R101H位点(NCBI SNP ID:rs146285839)多态性检测,分析基因型频率和等位基因频率在病例组和对照组的分布,比较不同基因型与TOF患病风险的关系。应用SPSS 15.0软件进行统计学分析。结果在312例样本中,CASP3基因R101H多态位点存在C/T多态。R101H多态位点基因型频率在TOF组与健康对照组中的分布存在统计学差异(χ2=9.752,P=0.008),等位基因频率在TOF组与健康对照组中的分布亦存在统计学差异(χ2=11.682,P=0.001),且T等位基因携带者患TOF的风险高于C等位基因携带者(OR=1.854,95%CI 1.298～2.647)。结论 CASP3基因R101H多态性与TOF具有明显的相关性,具有T等位基因的个体TOF患病风险增高,CASP3基因可能是TOF的遗传易感基因。

Abstract： Objective To investigate the association between the RI01 H polymorphism of CASP3 gene and Tetralogy of Fallot （TOF）. Methods One hundred and twelve children with TOF were selected,including 69 male and 43 female, aged （4.27 ± 1.93 ） years. Two hun- dred bealtby children were selected as healthy controls, including 102 males and 98 females, aged （ 5.68 ± 2.17 ） years. By case - control study, the R101 H （ NCBI SNP ID ： rs146285839） polymorphism of CASl？3 gene was detected with polymerase chain reaction - restriction frag- ment length polymorphism （PCR- RFLP）. The distribution of genotype and allele frequency at R101H polymorphism site in TOF group and the healthy control group were analyzed. Meanwhile, the relationship of different genotypes or alleles at the risk for TOF was compared in 2 groups. SPSS 15.0 software was used to analyze the data. Results Among 312 samples,there existed C/T polymorphism at RIO1H site of CASP3 gene. The distribution of genotype at R101H polymorphism site was significantly different between TOF group and the healthy control group （X2 = 9. 752, P = 0. 008 ）. The distribution of allele frequency at R101 H polymorphism site was also significantly different between TOF group and the healthy control group （X2 = 11. 682 ,P =0. 001 ） ,and the relative risk for TOF in T allele carriers was higher than that in C al- lele carriers（ OR = I. 854,95 % C1 1. 298 - 2. 647 ）. Conclusions R101H polymorphisms of CASP3 gene are associated with TOF and a per- son with T allele has much higher risk for TOF. CASP3 gene can be the genetic susceptibility gene of TOF.