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Title: Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.

Authors: Zhang, Kelan; Zhang, Sizhong; Zheng, Keqin; Hou, Yiping; Liao, Linchuan; He, Yong; Zhang, Li; Nebert, Daniel W; Shi, Jiajun; Su, Zhiguang; Xiao, Cuiying

Published In Biochem Biophys Res Commun, (2004 May 21)

Abstract: Coronary atherosclerotic heart disease (CAD) is a multifactorial disorder resulting from numerous gene-gene and gene-environment interactions. Lecithin:cholesterol acyltransferase (LCAT), a key enzyme in reverse cholesterol transport and the metabolism of high-density lipoprotein (HDL), is thought to be a candidate gene related to dyslipidemia and CAD. Variations in the LCAT gene were investigated in 190 CAD patients and 209 age- and gender-matched controls by denaturing high-performance liquid chromatography, and confirmed by sequencing and RFLP assay. In CAD patients, a novel single-nucleotide polymorphism (P143L) in exon 4 of the LCAT gene was discovered in nine males and two females (frequency of 5.79%), which was found in none of 209 controls. The genotype and allele distribution of P143L is significantly (P<0.04 ) higher in the low HDL-C subgroup than in the normal HDL-C subgroup in both male patients and all CAD patients. P143L was also found to be significantly (P<0.01) associated with the low HDL-C phenotype in both male patients and all CAD patients, with odds-ratios of 7.003 (95% CI 2.243-21.859) and 5.754 (95% CI 1.893-13.785), respectively. Thus, the P143L polymorphism may play a role in causing decreased HDL-C levels, leading to increased risk of dyslipidemia and CAD in Chinese.

PubMed ID: 15110745 Exiting the NIEHS site

MeSH Terms: Aged; Asian Continental Ancestry Group/genetics; Body Mass Index; Case-Control Studies; Chromatography, High Pressure Liquid/methods; Coronary Arteriosclerosis/blood*; Coronary Arteriosclerosis/genetics*; DNA Mutational Analysis/methods; Female; Gene Frequency; Genotype; Humans; Hyperlipidemia/blood; Hyperlipidemia/genetics*; Male; Middle Aged; Phosphatidylcholine-Sterol O-Acyltransferase/genetics*; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide*; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Sequence Analysis, DNA

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