骨形成蛋白4基因多态性与先天性心脏病易感性相关性研究  

Association between bone morphogenetic protein 4 polymorphism and susceptibility to congenital heart disease

作　　者：聂宇[1] 何锋[1] 顾海勇[2] 张辉[3] 刘瑞平[3] 张浩[1] 胡盛寿[1] 

机构地区：[1]中国医学科学院北京协和医学院国家心血管病中心阜外心血管病医院心血管疾病国家重点实验室,北京100037 [2]江苏大学附属镇江市第一人民医院胸外科,江苏镇江212009 [3]南京医科大学附属常州市第二人民医院中心实验室,江苏常州213003

出　　处：《中华实用诊断与治疗杂志》2013年第7期660-662,共3页Journal of Chinese Practical Diagnosis and Therapy

基　　金：中国博士后基金(2012T50066;2012M510353);中央高校基本科研业务费专项资金(2012-XHGX02);北京协和医学院博士后基金(2011-XH6)

摘　　要：目的探讨中国汉族人群中骨形成蛋白4(bone morphogenetic proteins 4,BMP4)rs17563 T>C和BMP4rs4444235T>C基因多态性与先天性心脏病(先心病)发生危险因素的关系。方法 120例法洛四联征患者(TOF组),124例大动脉转位患者(TGA组)和136例非先天性疾病者(对照组),3组采用基质辅助激光解吸电离飞行时间质谱技术分析BMP4rs17563T>C和BMP4rs4444235T>C基因多态性,计算各种基因型先心病发生风险。结果 TOF组BMP4rs17563T>C基因多态3种基因型TT、TC、CC频率分别为51.3%、40.0%、8.7%;TGA组分别为52.8%、39.8%、7.3%,对照组分别为49.6%、42.9%、7.5%,差异均无统计学意义(P>0.05);logistic回归分析显示,与携带BMP4rs17563TT基因型比较,携带BMP4rs17563TC或CC等位基因型与法洛四联症和大动脉转位的发病风险无相关性(P>0.05),BMP4rs4444235T>C各基因型与法洛四联征及大动脉转位的发病风险无相关性(P>0.05)。结论 BMP4rs17563T>C和BMP4rs4444235T>C基因多态性可能不是先心病发生的危险因素。Objective To explore the association of bone morphogenetic protein 4（BMP4） rs17563 TC and BMP4 rs4444235 TC polymorphism with the susceptibility to congenital heart disease in Chinese Han population.Methods The genotypes were determined by using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry method in 120 cases of tetralogy of Fallot（TOF group）,124 cases of transposition of the great artery（TGA group） and 136 controls without congenital diseases（control group）.And the risk factors for congenital heart disease were calculated.Results The frequencies of BMP4 rs17563 TC TT,TC and CC genotype were 51.3%,40.0% and 8.7% in TOF group,52.8%,39.8% and 7.3% in TGA group,and 49.6%,42.9% and 7.5% in control group respectively,which showed no significant differences between groups（P0.05）.Logistic regression analysis revealed that BMP4 rs17563 TC and CC were not correlated with TOF and TGA compared with BMP4 rs17563 TT（P0.05）.BMP4 rs4444235 TC variant genotypes were also not correlated with TOF and TGA（P0.05）.Conclusion BMP4 rs17563 TC and BMP4 rs4444235 TC polymorphisms may not serve as risk factors for congenital heart disease.

关 键 词：先天性心脏病 骨形成蛋白4 基质辅助激光解吸电离飞行时间质谱 单核苷酸多态性 

分 类 号：R541.1[医药卫生—心血管疾病]