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目的 探讨pri-miR-34b/c基因单核苷酸多态性( single nucleotide polymorphism,SNP)与先天性心脏病( congenital heart disease,CHD)易感性的关系. 方法 采用病例-对照研究选择CHD患者590例和612例非CHD患者对照,利用TaqMan荧光定量PCR方法检测中国汉族人群中pri-miR-34b/c基因rs4938123多态性,并对不同基因型临床资料进行分析. 结果 pri-miR-34b/c基因多态性位点rs4938123在CHD组的基因型频率为:TT 43. 1℅(258/590)、TC 44. 9℅(265/590)、CC 11. 4℅(61/590),对照组分别为 TT 45. 5℅(306/612)、TC 44. 1℅(296/612)、CC 10. 4℅(10/612),两组基因型频率差异无显著性(以野生型TT为参照,TC:OR=1. 063,95℅ CI 0. 841~1. 343,P=0. 611;CC:OR=1. 140,95℅ CI 0. 184~1. 651,P=0. 493),暴露于C等位基因型(TC+CC:OR=1. 016,95℅ CI 0. 861~1. 344,P=0. 519). CHD组三种基因型分布在CHDⅠ类、Ⅱ类和Ⅲ类分类中差异均无显著性. 结论 未发现中国汉族人群 pri-miR-34b/c 基因多态性位点rs4938123与散发CHD易感性存在关联.“,”Objective To investigate the association between single nucleotide polymorphism (SNP) of pri-miR-34b/c gene and the susceptibility to congenital heart disease ( CHD) in the Chinese Han population. Method The associa-tion between one SNP loci in pri-miR-34b/c gene (rs4938123) and CHD susceptibility was investigated by TaqMan quantitative polymerase chain reaction ( PCR) in 590 CHD patients and 612 CHD-free controls, allele and genotype frequencies were also analyzed according the clinical datas. Result Three genotypes of rs4938123 ( TT, TC and CC) account for 43. 1℅(258/590), 44. 9℅(265/590),11. 4℅(61/590) in the CHD group, and 45. 5℅(306/612), 44. 1℅(296/612),10. 4℅(10/612) in the control group, respectively. There was no significant difference between two groups. Setting the TT genotype as the reference, OR values of TC and CC genotypes were 1. 063 (95℅ CI 0. 841~1. 343,P=0. 611) and 1. 140 (95℅ CI 0. 184~1. 651,P=0. 493), while the OR value for ex-posure to the C allele (TC+ CC)was 1. 016 (95℅ CI 0. 861~1. 344,P=0. 519). There was also no significant difference in CHD classificationⅠ,ⅡandⅢamong the three genotypes. Conclusion The study dose not find single nucleotide polymorphism of pri-miR-34b/c locus rs4938123 is associated with the susceptibility to sporadic CHD pa-tients in the Chinese Han population.