ATP结合盒转运子A1基因R219K多态性与维吾尔族及汉族冠心病的关联研究

目的探讨ATP结合盒转运子A1（ABCAl）基因R219K多态性与新疆维吾尔族和汉族冠心病及血脂的相关性。方法收集2006年12月-2008年5月住院及门诊患者中无血缘关系的维吾尔族、汉族为研究对象。冠心病组377例，其中维吾尔族199例，汉族178例；对照组178例，其中维吾尔族83例，汉族95例。用聚合酶链式反应限制性片段长度多态性方法，检测维吾尔族和汉族冠心病组及对照组ABCAl基因R219K多态性，并比较不同基因型间血脂水平。结果ABCAl基因R219K多态性K等位基因频率在维吾尔族冠心病组和对照组间分布差异有统计学意义（P〈0．05）。维吾尔族对照组中载脂蛋白A水平在KR型高于KK型，汉族冠心病组中低密度脂蛋白胆固醇水平在KR型高于KK型，差异有统计学意义（P〈0．05），但不具有临床意义。不同基因型间的其余血脂水平差异无统计学意义（P〉0．05）。结论ABCAl基因R219K多态性K等位基因频率与维吾尔族冠心病相关，K等位基因可能降低其发病风险；ABCAlR219K多态性等位基因频率在维吾尔族和汉族间无差异，且对维吾尔族、汉族血脂水平无明显影响。

Study on the Association between R219K Polymorphism of ATP-binding Cassette Transporter A1 Gene and Coronary Heart Disease in Uygur and Han

Objective To investigate the association between ATP-binding cassette transporter A1 （ABCA1） gene polymorphism and coronary heart disease （CHD） in Xinjiang Uygur and Han, as well as the differences of genotypes and alleles distribution between Uygur and Han. Methods A total of 377 unrelated CHD patients and 178 CHD-free controls treated in our hospital between September 2006 and December 2007 were recruited. The CHD group included 199 Uygur patients and 178 Han patients. The control group included 83 Uygur individuals and 95 Han individuals. PCR-restriction fragment length polymorphism was used to detect R219K Polymorphism of ABCA1 genes both in CHD and CHD-free patients. Results The frequency distribution of genotype and allele was not significantly different between patients and controls in two races; the frequency of K allele was signficantly different between Uygur CHD group and the control group. The levels of blood fat in different genotypes of R219K polymorphism were not significantly different between Uygur and Han. Conclusions There is correlation between R219K polymorphism of the ABCA1 gene and CHD in Uygur, and K allele may be a protective factor. R219K polymorphism has not influenced on metabolism of lipoprotein in Uygur and Han.