Rai Himanshu, Sinha Nakul, Finn James, Agrawal Suraksha, Mastana Sarabjit
Department of Cardiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences , Lucknow , UP , India.
Department of Cardiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP, India; Department of Cardiology, Sahara India Medical Institute, Lucknow, UP, India.
Cogent Med. 2016 Dec 31;3(1):1266789. doi: 10.1080/2331205X.2016.1266789. Epub 2016 Dec 17.
Genetic variants are considered as one of the main determinants of the concentration of serum lipids and coronary artery disease (CAD). Polymorphisms in the Apolipoprotein (Apo) AI-CIII-AIV gene cluster has been known to affect the concentrations of various lipid sub-fractions and the risk of CAD. The present study assessed associations between polymorphisms of the Apo AI-CIII-AIV gene cluster, [ApoA-I,-75G > A, (rs1799837); ApoC-III 3238C > G, (), (rs5128) and ApoA-IV, Thr347Ser(347A > T), (rs675)] with serum lipids and their contributions to CAD in North Indian population. We recruited age, sex matched, 200 CAD patients and 200 healthy controls and tested them for fasting levels of serum lipids. We genotyped selected polymorphisms using polymerase chain reaction-restriction fragment length polymorphism. There were no statistically significant association of selected polymorphisms (or their combinations) with CAD even after employing additive, dominant and recessive models. However there was significant association of selected polymorphisms with various lipid traits amongst the control cohort ( < 0.05). Mean levels of high density lipoprotein cholesterol and triglycerides were found to be significantly higher among controls carrying at least one mutant allele at ApoA1-75G > A ( = 0.019) and ApoCIII ( < 0.001) polymorphism respectively. Our study observed that the selected polymorphisms in the ApoAI-CIII-AIV gene cluster although significantly affect various lipid traits but this affect does not seem to translate into association with CAD, at least among North Indian population.
基因变异被认为是血清脂质浓度和冠状动脉疾病(CAD)的主要决定因素之一。已知载脂蛋白(Apo)AI-CIII-AIV基因簇中的多态性会影响各种脂质亚组分的浓度以及CAD风险。本研究评估了Apo AI-CIII-AIV基因簇的多态性[ApoA-I,-75G>A,(rs1799837);ApoC-III 3238C>G,(),(rs5128)和ApoA-IV,Thr347Ser(347A>T),(rs675)]与北印度人群血清脂质的关联及其对CAD的影响。我们招募了年龄、性别匹配的200名CAD患者和200名健康对照,并检测了他们的空腹血清脂质水平。我们使用聚合酶链反应-限制性片段长度多态性对选定的多态性进行基因分型。即使采用加性、显性和隐性模型,选定的多态性(或其组合)与CAD之间也没有统计学上的显著关联。然而,在对照组中,选定的多态性与各种脂质特征存在显著关联(<0.05)。发现在ApoA1-75G>A(=0.019)和ApoCIII (<0.001)多态性中携带至少一个突变等位基因的对照组中,高密度脂蛋白胆固醇和甘油三酯的平均水平分别显著更高。我们的研究观察到,ApoAI-CIII-AIV基因簇中选定的多态性虽然显著影响各种脂质特征,但这种影响似乎并未转化为与CAD的关联,至少在北印度人群中如此。