The Association of PLA2G7 Gene Polymorphisms with Serum Lp-PLA2 Activity and Lipid Profile in Han Chinese Patients with Coronary Heart Disease.

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY
Pharmacogenomics & Personalized Medicine Pub Date : 2024-12-21 eCollection Date: 2024-01-01 DOI:10.2147/PGPM.S474494
Yanhai Wang, Yupeng Shi, Zhongwei Wu, Jiangfeng Gao, Jing Wang, Lei Li, Yugang Wan, MuGu Lang A, Jianwen Zhang, Hongbo Wang, Yu Hou
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Abstract

Purpose: This study aimed to investigate the distribution patterns of PLA2G7 gene variants in Han Chinese patients with coronary heart disease (CHD), and their relationships with serum lipoprotein-associated phospholipase A2 (Lp-PLA2) levels and lipid profiles.

Methods: A total of 93 han Chinese CHD patients were recruited. Serum Lp-PLA2 levels were determined using enzyme-linked immunosorbent assay (ELISA), while comprehensive analysis of PLA2G7 gene polymorphisms was conducted through whole-exome sequencing. Concurrently, multiple lipid parameters were measured and analyzed.

Results: Among these Han Chinese CHD patients, the PLA2G7 gene rs1051931 (c.1136T>C p.Val379Ala) rare variant was highly prevalent (variant rate: 94.62%) among the study population, and showed negative correlation with serum Lp-PLA2 activity. The rs1765208290 (c.233G>A p.Gly78Asp) rare variant showed positive correlation with TG, ApoA, ApoB, HDL, LDL and TCHO levels in the serum. Strong linkage disequilibrium was observed between the rs1805018 (c.593T>C p.Ile198Thr) and rs76863441 (c.835G>T p.Val279Phe), both of which were related to lower Lp-PLA2 activity.

Conclusion: In these Han Chinese CHD patients, the rs1051931 (c.1136T>C p.Val379Ala) rare variant in the PLA2G7 gene is closely linked to decreased Lp-PLA2 activity, whereas the rs1765208290 (c.233G>A p.Gly78Asp) rare variant influences lipid homeostasis. The strong LD between rs1805018 (c.593T>C p.Ile198Thr) and rs76863441 (c.835G>T p.Val279Phe) loci may act synergistically to reduce Lp-PLA2 activity.

汉族冠心病患者PLA2G7基因多态性与血清Lp-PLA2活性和血脂的关系
目的:探讨中国汉族冠心病患者PLA2G7基因变异的分布规律及其与血清脂蛋白相关磷脂酶A2 (Lp-PLA2)水平和血脂的关系。方法:共招募93例汉族冠心病患者。采用酶联免疫吸附法(ELISA)检测血清Lp-PLA2水平,通过全外显子组测序对PLA2G7基因多态性进行综合分析。同时,测量和分析多种脂质参数。结果:在汉族冠心病患者中,PLA2G7基因rs1051931 (C . 1136t >C . val379ala)罕见变异在研究人群中高度流行(变异率为94.62%),且与血清Lp-PLA2活性呈负相关。rs1765208290 (c.233G>A p.Gly78Asp)罕见变异与血清中TG、ApoA、ApoB、HDL、LDL和TCHO水平呈正相关。rs1805018 (C . 593t >C . p.Ile198Thr)和rs76863441 (C . 835g >T . p.Val279Phe)之间存在强烈的连锁不平衡,两者都与较低的Lp-PLA2活性有关。结论:在中国汉族冠心病患者中,PLA2G7基因rs1051931 (C . 1136t >C . p.Val379Ala)罕见变异与Lp-PLA2活性降低密切相关,而rs1765208290 (C . 233g >A . p.Gly78Asp)罕见变异影响脂质稳态。rs1805018 (C . 593t >C . p.Ile198Thr)和rs76863441 (C . 835g >T . p.Val279Phe)位点之间的强LD可能协同作用降低Lp-PLA2活性。
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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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