Department of Medical Biology and Genetics, Marmara University School of Medicine, Istanbul, Turkey; Department of Medical Biology, Acibadem University School of Medicine, Istanbul, Turkey.
Department of Medical Biology, Acibadem University School of Medicine, Istanbul, Turkey.
J Clin Lipidol. 2011 May-Jun;5(3):152-158. doi: 10.1016/j.jacl.2011.02.008. Epub 2011 Mar 1.
Lecithin:cholesterol acyltransferase (LCAT) is one of the key enzymes controlling cholesterol homeostasis and plays a primary role in high-density lipoprotein cholesterol (HDL-C) maturation.
The aim of our study was to evaluate the effects of LCAT gene polymorphisms 511C/T (exon4), 4886C/T (rs5923), and 608C/T (rs5922) on LCAT enzyme level, activity, and HDL-C levels.
The study population was selected from consecutive subjects with low (<35 mg/dL) and high HDL-C levels (>65 mg/dL) seen in our lipid clinic. LCAT polymorphisms were analyzed with a restriction fragment length polymorphism assay. LCAT activity and levels were measured by colorimetric enzymatic and enzyme-linked immunoassay methods, respectively.
The 4886C/T polymorphism was the most commonly observed variant of LCAT gene. T-allele frequencies in subjects with low (n = 50) and high (n = 50) HDL-C were 0.54 and 0.37, respectively (P = .019). TT genotype was more common among low HDL-C group (30% vs 14%, P = .05). The effects of LCAT enzyme appeared to depend on the HDL-C level. In subjects with low HDL-C, LCAT enzyme levels correlated positively with body mass index (P < .001, r = 0.544), HDL-C (P = .006, r = 0.404), triglycerides (P = .001, r = 0.487), total cholesterol (P < .001, r = 0.541), and low-density lipoprotein-cholesterol (P = .001, r = 0.477) levels. LCAT activity correlated positively with fasting glucose levels (P = .008, r = 0.390).
LCAT genotype, enzyme level, and activity modulate HDL-C metabolism, particularly among subjects with low HDL-C levels.
卵磷脂胆固醇酰基转移酶（LCAT）是控制胆固醇动态平衡的关键酶之一，在高密度脂蛋白胆固醇（HDL-C）成熟中发挥主要作用。
本研究旨在评估 LCAT 基因 511C/T（外显子 4）、4886C/T（rs5923）和 608C/T（rs5922）多态性对 LCAT 酶水平、活性和 HDL-C 水平的影响。
研究人群选自我们血脂诊所中低（<35mg/dL）和高（>65mg/dL）HDL-C 水平的连续患者。LCAT 多态性通过限制性片段长度多态性分析进行分析。LCAT 活性和水平分别通过比色酶学法和酶联免疫吸附法测定。
4886C/T 多态性是 LCAT 基因最常见的变异。低（n=50）和高（n=50）HDL-C 组中 T 等位基因频率分别为 0.54 和 0.37（P=0.019）。TT 基因型在低 HDL-C 组中更为常见（30%比 14%，P=0.05）。LCAT 酶的作用似乎取决于 HDL-C 水平。在低 HDL-C 患者中，LCAT 酶水平与体重指数（P<0.001，r=0.544）、HDL-C（P=0.006，r=0.404）、甘油三酯（P=0.001，r=0.487）、总胆固醇（P<0.001，r=0.541）和低密度脂蛋白胆固醇（P=0.001，r=0.477）水平呈正相关。LCAT 活性与空腹血糖水平呈正相关（P=0.008，r=0.390）。
LCAT 基因型、酶水平和活性调节 HDL-C 代谢，尤其是在低 HDL-C 水平的患者中。
