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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。
Objective To investigate the association between CASP3 R101H polymorphism and tetralogy of Fallot (TOF). Methods 112 children with TOF were selected (TOF group). 69 males and 43 females; age (4.27 ± 1.93) years. At the same time, 200 healthy children were selected as healthy control group. There were 102 males and 98 females with a mean age of 5.68 ± 2.17 years. Using case-control study, PCR-restriction fragment length polymorphism (RFLP) was used to detect polymorphism of CASP3 gene R101H locus (NCBI SNP ID: rs146285839). The frequencies of genotypes and alleles were analyzed in cases and controls Group distribution, to compare the different genotypes and the risk of TOF relationship. SPSS 15.0 software was used for statistical analysis. Results Of the 312 samples, there were C / T polymorphisms in CASP3 R101H polymorphism. The distribution of R101H genotype frequency in TOF group and healthy control group was statistically different (χ2 = 9.752, P = 0.008). The distribution of allele frequency in TOF group and healthy control group also had statistical significance (Χ2 = 11.682, P = 0.001), and the risk of TOF in T allele was higher than that in C allele (OR = 1.854, 95% CI 1.298-2.657). Conclusion The R101H polymorphism of CASP3 gene is significantly associated with TOF. The risk of TOF in individuals with T allele is increased. CASP3 gene may be a genetic susceptibility gene of TOF.