Document Detail


Association of lipoprotein lipase polymorphism rs2197089 with serum lipid concentrations and LPL gene expression.
MedLine Citation:
PMID:  23344322     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Xingbo Mo; Xuehui Liu; Laiyuan Wang; Xiangfeng Lu; Shufeng Chen; Hongfan Li; Jianfeng Huang; Jichun Chen; Jie Cao; Jianxin Li; Yida Tang; Dongfeng Gu
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-24
Journal Detail:
Title:  Journal of human genetics     Volume:  58     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-25     Completed Date:  2013-11-29     Revised Date:  2014-01-31    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  160-4     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
China / epidemiology
Cholesterol, HDL / blood*
Female
Gene Expression Regulation, Enzymologic*
Gene Frequency
Genetic Association Studies
Genetics, Population / methods
Heterozygote
Homozygote
Humans
Lipoprotein Lipase / genetics*,  metabolism
Male
Middle Aged
Polymorphism, Single Nucleotide
Smoking / genetics
Triglycerides / blood
Chemical
Reg. No./Substance:
0/Cholesterol, HDL; 0/Triglycerides; EC 3.1.1.34/LPL protein, human; EC 3.1.1.34/Lipoprotein Lipase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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