Naseri Mohsen, Hedayati Mehdi, Daneshpour Maryam Sadat, Bandarian Fatemeh, Azizi Fereidoun
Genomic Research Center, Birjand university of Medical Sciences, Birjand, Iran.
Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Iran Biomed J. 2015;19(3):172-6. doi: 10.7508/ibj.2015.03.007. Epub 2015 Jun 28.
The serum concentration of high-density lipoprotein cholesterol (HDL-C) is one of the important heritable risk factors for cardiovascular disease and is a target for therapeutic intervention. In this study, we aimed to evaluate the effects of lecithin cholesterol acyltransferase (LCAT) gene polymorphism rs5923 on LCAT enzyme activity and serum HDL-C concentration.
The study population was selected from consecutive individuals with HDL-C ≤ 5th percentile (n = 73) and extremely high HDL-C ≥ 95th percentile (n = 57) who had participated in the Tehran Lipid and Glucose Study. The rs5923 polymorphism was genotyped using direct sequencing. LCAT activity was measured by fluorometric assay kit, and lipid concentrations were measured using the enzymatic colorimetric method.
The genotype frequencies were significantly different between the high HDL-C group (CC 94.7%, CT 5.3%) and the low HDL-C group (CC 83.6%, CT 16.4%) (P = 0.048). The T-allele frequencies in subjects with low and high HDL-C were 0.082 and 0.026, respectively (P = 0.16). The association of the single-nucleotide polymorphism rs5923 with low HDL-C was not statistically significant after adjustment for age, sex, and BMI (odd ratio = 2.65, 95% confidence interval = 0.32-21.5, P = 0.36, regression logistic analysis). Also, the effects of LCAT enzyme activity did not depend on the HDL-C level (P = 0.24).
rs5923 polymorphism is not associated with low HDL-C levels in Iranian population.
血清高密度脂蛋白胆固醇(HDL-C)浓度是心血管疾病重要的可遗传危险因素之一,也是治疗干预的靶点。在本研究中,我们旨在评估卵磷脂胆固醇酰基转移酶(LCAT)基因多态性rs5923对LCAT酶活性及血清HDL-C浓度的影响。
研究人群选自参与德黑兰血脂与血糖研究的HDL-C≤第5百分位数的连续个体(n = 73)和HDL-C≥第95百分位数的极高HDL-C个体(n = 57)。采用直接测序法对rs5923多态性进行基因分型。使用荧光检测试剂盒测定LCAT活性,采用酶比色法测定血脂浓度。
高HDL-C组(CC 94.7%,CT 5.3%)与低HDL-C组(CC 83.6%,CT 16.4%)的基因型频率存在显著差异(P = 0.048)。低HDL-C和高HDL-C受试者的T等位基因频率分别为0.082和0.026(P = 0.16)。在对年龄、性别和BMI进行校正后,单核苷酸多态性rs5923与低HDL-C的关联无统计学意义(比值比=2.65,95%置信区间=0.32 - 21.5,P = 0.36,回归逻辑分析)。此外,LCAT酶活性的影响不依赖于HDL-C水平(P = 0.24)。
在伊朗人群中,rs5923多态性与低HDL-C水平无关。