中国汉族冠心病患者中PLA2G7基因多态性与血清Lp-PLA2活性及血脂谱的相关性
The Association of PLA2G7 Gene Polymorphisms with Serum Lp-PLA2 Activity and Lipid Profile in Han Chinese Patients with Coronary Heart Disease.
作者信息
Wang Yanhai, Shi Yupeng, Wu Zhongwei, Gao Jiangfeng, Wang Jing, Li Lei, Wan Yugang, Lang A MuGu, Zhang Jianwen, Wang Hongbo, Hou Yu
机构信息
Department of Clinical Laboratory, Hohhot First Hospital, Hohhot, 010030, People's Republic of China.
Zhejiang Digena Diagnosis Technology CO., LTD, Zhejiang, 310030, People's Republic of China.
出版信息
Pharmgenomics Pers Med. 2024 Dec 21;17:563-572. doi: 10.2147/PGPM.S474494. eCollection 2024.
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.
目的
本研究旨在调查汉族冠心病（CHD）患者中PLA2G7基因变异的分布模式，以及它们与血清脂蛋白相关磷脂酶A2（Lp-PLA2）水平和血脂谱的关系。
方法
共招募了93名汉族冠心病患者。采用酶联免疫吸附测定（ELISA）法测定血清Lp-PLA2水平，通过全外显子测序对PLA2G7基因多态性进行综合分析。同时，测量并分析多个血脂参数。
结果
在这些汉族冠心病患者中，PLA2G7基因rs1051931（c.1136T>C p.Val379Ala）罕见变异在研究人群中高度流行（变异率：94.62%），且与血清Lp-PLA2活性呈负相关。rs1765208290（c.233G>A p.Gly78Asp）罕见变异与血清中甘油三酯（TG）、载脂蛋白A（ApoA）、载脂蛋白B（ApoB）、高密度脂蛋白（HDL）、低密度脂蛋白（LDL）和总胆固醇（TCHO）水平呈正相关。观察到rs1805018（c.593T>C p.Ile198Thr）和rs76863441（c.835G>T p.Val279Phe）之间存在强连锁不平衡，二者均与较低的Lp-PLA2活性有关。
结论
在这些汉族冠心病患者中，PLA2G7基因的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）位点之间的强连锁不平衡可能协同作用降低Lp-PLA2活性。
Zotero 插件