miR-146a rs2910164 C>G基因多态性与先天性心脏病易感性的研究

Association study of miR-146a rs2910164 C>G polymorphism and risk of congenital heart disease

目的研究中国汉族人群中miR-146a rs2910164 C>G基因多态性与先天性心脏病发生危险因素关系。方法采用以医院为基础的病例-对照研究,运用质谱SNP分型技术对120例法洛四联症(TOF)患儿,124例大动脉转位(TGA)患儿和136例对照人群进行了miR-146a rs2910164 C>G基因多态性分析,计算各种基因型的先心发生风险及其95%可信区间。结果 miR-146a rs2910164 C>G基因多态三种基因型CC,CG,GG在TOF组、TGA组以及对照组的频率分别为33.9%(CC),49.2%(CG),16.9%(GG);36.1%(CC),51.6%(CG),12.3%(GG)以及35.8%(CC),51.5%(CG),12.7%(GG);通过Logistic回归分析,发现携带miR-146a rs2910164 CG或GG等位基因型与TOF和TGA的发病风险无明显相关。结论 miR-146a rs2910164 C>G基因多态性可能不是先天性心脏病发生的危险因素,相关结果需要进一步研究证实。

Objective To elucidate the association between miR - 146a rs2910164 C 〉 G polymorphism and the susceptibility to congenital heart disease in a Chinese Han population. Methods C, enotypes were determined by matrix - assisted laser desorption/ionization time - of - flight mass spectrometry （MALDI -TOF MS） method in 120 Tetralogy of Fallot （TOF） eases, 124 transposition of the great arteries （TGA） cases and 136 control subjects. Results The miR - 146a rs2910164 C 〉 G genotype frequencies were 33.9% （CC） , 49.2% （ CG）, 16.9% （GG） ; 36.1% （ CC）, 51.6% （ CG）, 12.3% （GG） in the TOF group and TGA group and 35.8% （ CC）, 51.5% （ CG）, 12.7% （GG） in the eontrol group respeetively; Logistic regression analyses revealed that the risk associated with miR - 146a rs2910164 C 〉 G variant genotype was not signifi- cant for TOF and TGA. Conclusion miR - 146a rs2910164 C 〉 G polymorphism may not serve as a risk factor of CHD susceptibility. Further functional studies are needed to verify our findings.