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.
J Hum Genet. 2013 Mar;58(3):160-4. doi: 10.1038/jhg.2012.151. Epub 2013 Jan 24.
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.
最近的全基因组关联研究报道了许多单核苷酸多态性（SNPs）与血脂浓度有关。本研究旨在验证脂蛋白脂肪酶（LPL）基因中的 rs2197089 与中国汉族人群血清脂质浓度和基因表达水平的关联，并研究其潜在的相互作用。共招募了 9339 名参与者进行 rs2197089 基因分型。通过实时 PCR 评估了 309 名参与者血细胞中 LPL 的基因表达水平。我们观察到 rs2197089 与甘油三酯（TG）降低（P=0.0006）显著相关，但与高密度脂蛋白胆固醇（HDL-C）浓度（P=0.0881）无关。然而，检测到吸烟与 rs2197089 之间存在弱的相互作用证据（P=0.0362）。在吸烟者中，发现 rs2197089 与 HDL-C 浓度升高显著相关（P=0.0068）。携带 minor 等位基因 A 的参与者的 LPL 表达水平更高（P=0.0243）。我们的研究结果表明，rs2197089 与 TG 显著相关，但仅在吸烟者中与 HDL-C 相关。该 SNP 似乎对 LPL 的表达水平有影响。
