Shahid Saleem Ullah, Shabana N A, Cooper Jackie A, Rehman Abdul, Humphries Steve E
Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan, 54590.
Centre of Cardiovascular Genetics, British Heart Foundation Laboratories, University College London, London, WC1E6JF, UK, England.
Lipids Health Dis. 2017 Jan 31;16(1):24. doi: 10.1186/s12944-017-0419-4.
Serum Triglyceride (TG) and High Density Lipoprotein (HDL-C) levels are modifiable coronary artery disease (CAD) risk factors. Polymorphisms in the genes regulating TG and HDL-C levels contribute to the development of CAD. The objective of the current study was to investigate the effect of four such single nucleotide polymorphism (SNPs) in the genes for Lipoprotein Lipase (LPL) (rs328, rs1801177), Apolipoprotein A5 (APOA5) (rs66279) and Cholesteryl ester transfer protein (CETP) (rs708272) on HDL-C and TG levels and to examine the association of these SNPs with CAD risk.
A total of 640 subjects (415 cases, 225 controls) were enrolled in the study. The SNPs were genotyped by KASPar allelic discrimination technique. Serum HDL-C and TG were determined by spectrophotometric methods.
The population under study was in Hardy Weinberg equilibrium and minor allele of SNP rs1801177 was completely absent in the studied subjects. The SNPs were association with TG and HDL-C levels was checked through regression analysis. For rs328, the effect size of each risk allele on TG and HDL-C (mmol/l) was 0.16(0.08) and -0.11(0.05) respectively. Similarly, the effect size of rs662799 for TG and HDL-C was 0.12(0.06) and -0.13(0.0.3) and that of rs708272 was 0.08(0.04) and 0.1(0.03) respectively. The risk allele frequencies of the SNPs were higher in cases than controls, but the difference was not significant (p > 0.05) and SNPs were not associated with CAD risk (p > 0.05). The combined gene score of four SNPs significantly raised TG and lowered HDL-C but did not increase CAD risk.
The studied SNPs were associated with TG and HDL-C levels, but not with CAD in Pakistani population under study.
血清甘油三酯(TG)和高密度脂蛋白(HDL-C)水平是可改变的冠状动脉疾病(CAD)危险因素。调节TG和HDL-C水平的基因多态性会促使CAD的发生。本研究的目的是调查脂蛋白脂肪酶(LPL)基因(rs328、rs1801177)、载脂蛋白A5(APOA5)基因(rs66279)和胆固醇酯转运蛋白(CETP)基因(rs708272)中的四个单核苷酸多态性(SNP)对HDL-C和TG水平的影响,并检验这些SNP与CAD风险的关联。
本研究共纳入640名受试者(415例病例,225例对照)。采用KASPar等位基因鉴别技术对SNP进行基因分型。采用分光光度法测定血清HDL-C和TG水平。
所研究的人群处于哈迪-温伯格平衡状态,且所研究的受试者中完全不存在SNP rs1801177的次要等位基因。通过回归分析检查SNP与TG和HDL-C水平的关联。对于rs328,每个风险等位基因对TG和HDL-C(mmol/l)的效应大小分别为0.16(0.08)和-0.11(0.05)。同样,rs662799对TG和HDL-C的效应大小分别为0.12(0.06)和-0.13(0.03),rs708272的效应大小分别为0.08(0.04)和0.1(0.03)。病例组中SNP的风险等位基因频率高于对照组,但差异不显著(p>0.05),且SNP与CAD风险无关(p>0.05)。四个SNP的综合基因评分显著升高了TG水平并降低了HDL-C水平,但未增加CAD风险。
在本研究的巴基斯坦人群中,所研究的SNP与TG和HDL-C水平相关,但与CAD无关。