在2型糖尿病人群中ABCA1R219K基因多态性与血脂的关系

Association between ABCA1 R219K gene polymorphism and blood lipids in type 2 diabetes patients

目的:研究ABCA1R219K基因多态性在2型糖尿病(T2DM)患者中的分布及其与血脂的关系.方法:应用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)方法检测143例T2DM患者和83例健康对照者(作为正常对照组)ABCA1R219K多态性基因型,分析其分布特点及其与血脂水平的关系.结果:RR,RK和KK基因型在T2DM组的分布分别为:57,71,15例;正常对照组:29,38,16例.两组比较,AB-CA1R219K多态性的基因型及等位基因频率分布差异均无统计学意义(χ2=3.454,P=0178;χ2=2.098,P=0.147),提示ABCA1R219K多态性与T2DM的发病无关.在T2DM组中,KK型的HDL-C水平高于RR型和RK型(1.38,1.27,1.28),TG水平在RR型、RK型和KK型之间依次递减(2.09,1.96,1.75),且KK型的HDL-C与RR型之间差异有统计学意义(P=0.046).结论:ABCA1R219K多态性不是T2DM发病的遗传学标志,但该变异参与T2DM患者脂质异常的调节.

AIM： To study the relationship between the polymorphism of ATP-binding cassette transporter AI （ABCA1） R219K and type 2 diabetes mellitus （T2DM） in Chinese Han population. METHODS： This was a case-control study, which enrolled 83 healthy controls and 143 T2DM patients. The genotype and allele frequencies of ABCA1 R219K genetic variation were assayed by polymerase chain reaction-restricted fragment length polymorphism （PCR-RFLP）. RESULTS ： In the T2DM group, there were 57 carriers of ABCA1 R219K RR genotype, 71 of RK genotype and 15 of KK genotype. In the control group, there were 29 carriers of ABCA1 RR genotype, 38 of RK genotype and 16 of KK genotype. The genotypes and allele frequencies in the T2DM group were not significantly different from those in the control group （χ2 =3.454, P=0. 178;χ2 =2.098, P=0. 147）. In the T2DM group, the KK genotype frequency had a higher HDL-C level （1.38, P =0.046 vs RR） and a insignificant lower TG level （1.75） than RR and RK genotypes （ HDL-C ： 1.27, 1.28; TG： 2. 09, 1. 96）, CONCLUSION： ABCA1 R219K polymorphism was not associated with T2DM in Chinese Han population, but it was associated with dyslipidemia in T2DM.