Association of lipoprotein lipase polymorphism rs2197089 with serum lipid concentrations and LPL gene expression.
Many single-nucleotide polymorphisms (SNPs) have been reported to be associated with lipid concentrations in recent genome-wide association studies. The aim of this study was to validate the associations of rs2197089 in the lipoprotein lipase (LPL) gene with serum lipid concentrations and gene expression levels in the Chinese Han population and examine the potential interactions. A total of 9339 participants were recruited and genotyped for rs2197089. Gene expression levels of LPL in blood cells of 309 participants were evaluated by real-time PCR. We observed significant associations between rs2197089 and decreased triglycerides (TG) (P=0.0006), but not high-density lipoprotein cholesterol (HDL-C) concentration (P=0.0881). However, weak evidence of interaction between cigarette smoking and rs2197089 was detected (P=0.0362). In smokers, significant association between rs2197089 and increased HDL-C concentration was found (P=0.0068). Participants with the minor allele A had higher expression levels of LPL (P=0.0243). The results of our study indicated that rs2197089 was significantly associated with TG but it was associated with HDL-C only in smokers. This SNP seemed to have influence on the expression level of LPL.
State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital & National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Xingbo
X
Mo
Xuehui
X
Liu
Laiyuan
L
Wang
Xiangfeng
X
Lu
Shufeng
S
Chen
Hongfan
H
Li
Jianfeng
J
Huang
Jichun
J
Chen
Jie
J
Cao
Jianxin
J
Li
Yida
Y
Tang
Dongfeng
D
Gu
D002681:China / Q000453:epidemiology; D008076:Cholesterol, HDL / Q000097:blood*; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D005787:Gene Frequency; D056726:Genetic Association Studies; D005828:Genetics, Population / Q000379:methods; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012907:Smoking / Q000235:genetics; D014280:Triglycerides / Q000097:blood
D008076:Cholesterol, HDL; D014280:Triglycerides; C548261:LPL protein, human; D008071:Lipoprotein Lipase