pri-miR-34b/c基因单核苷酸多态性与中国汉族人群先天性心脏病易感性关系  

Single nucleotide polymorphism of pri-miR-34b/c gene and the susceptibility to congenital heart disease in the Chinese Han population

作　　者：刘益明[1] 莫绪明[2] 黄斌[1] 张正东[3] 虞桂平[1] 孙剑[2] 吴珍[2] 王晓航[2] 王美林[3] 

机构地区：[1]东南大学附属江阴医院胸心外科,江苏江阴214400 [2]南京医科大学附属南京儿童医院心胸外科,江苏南京210008 [3]南京医科大学公共卫生学院分子与基因毒理学实验室,江苏南京210008

出　　处：《中国医刊》2015年第11期32-35,共4页Chinese Journal of Medicine

基　　金：国家自然科学基金(81070137)

摘　　要：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.

关 键 词：先天性心脏病 多态性 单核苷酸 易感性 

分 类 号：R541.1[医药卫生—心血管疾病]