PLA2G7基因单核苷酸多态性与Lp-PLA2活性和质量浓度的相关性

doi:10.3969/j.issn.1673-8640.2026.06.005

摘要/Abstract

摘要：

目的探讨PLA2G7基因单核苷酸多态性（SNP）与脂蛋白相关磷脂酶A2（Lp-PLA2）活性和质量浓度之间的关系。方法选取2024年1—12月复旦大学附属中山医院经冠状动脉造影确诊的冠心病（CAD）患者100例（CAD组）和健康体检者100名（正常对照组）。检测所有研究对象血清总胆固醇（TC）、三酰甘油（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）水平和Lp-PLA2活性、质量浓度，以及PLA2G7基因rs1805017位点、rs1805018位点、rs76863441位点、rs1051931位点的SNP。采用Spearman相关分析评估PLA2G7基因不同位点SNP之间的相关性。采用多元线性模型分析Lp-PLA2活性和质量浓度的影响因素。结果 CAD组和正常对照组血清TC、TG、LDL-C、HDL-C水平和Lp-PLA2活性差异均有统计学意义（P<0.05），Lp-PLA2质量浓度2个组之间差异均无统计学意义（P>0.05）。CAD组和正常对照组PLA2G7基因rs1051931位点基因型分布位点差异有统计学意义（P=0.036），其他位点基因型分布2个组之间差异均无统计学意义（P>0.05）。在所有研究对象中，PLA2G7基因I198T位点突变与V279F位点突变呈强正相关（r=0.706，P<0.001），V379A位点突变与R92H、I198T位点突变均呈弱正相关（r值分别为0.256、0.140，P<0.05）。在CAD组和正常对照组中，V279F突变和I198T突变（包括杂合突变和纯合突变）携带者Lp-PLA2活性和质量浓度均显著低于野生型（P<0.05）。调整年龄、性别和血脂指标后，V279F和I198T突变是Lp-PLA2 质量浓度降低的独立影响因素（P<0.05），V279F突变是Lp-PLA2活性降低的独立影响因素（P<0.001）。结论 PLA2G7基因 rs1805018和rs76863441位点SNP与Lp-PLA2活性和质量浓度有关，且均是 Lp-PLA2水平降低的独立影响因素。

Abstract:

Objective To investigate the relationship between PLA2G7 gene single nucleotide polymorphisms（SNP）and the activity and concentration of lipoprotein-associated phospholipase A2 （Lp-PLA2）. Methods A total of 100 patients with coronary artery disease （CAD） diagnosed by coronary angiography at Zhongshan Hospital of Fudan University from January 2024 to December 2024 and 100 healthy subjects （healthy control group） were enrolled. The serum total cholesterol （TC），triglyceride （TG），high-density lipoprotein cholesterol （HDL-C），low-density lipoprotein cholesterol （LDL-C） and Lp-PLA2 activity and concentration were determined，as well as the SNP of PLA2G7 gene at rs1805017，rs1805018，rs76863441 and rs1051931 loci. Spearman correlation analysis was used to evaluate the correlation between different SNP sites of PLA2G7 gene. Multiple linear models were used to analyze the influencing factors of Lp-PLA2 activity and concentration. Results There was statistical significance in serum TC，TG，LDL-C，HDL-C levels and Lp-PLA2 activity between CAD group and healthy control group （P<0.05），while there was no statistical significance in Lp-PLA2 concentration between the 2 groups （P>0.05）. The genotype distribution of PLA2G7 gene at rs1051931 locus had statistical significance between CAD group and healthy control group （P=0.036）. The genotypes at other loci showed no statistical significance between the 2 groups （P>0.05）. Among all the subjects，the PLA2G7 gene I198T locus mutation was positively correlated with V279F locus mutation （r=0.706，P<0.001），and V379A locus mutation was positively correlated with R92H and I198T locus mutations（r values were 0.256 and 0.140，P<0.05）. In CAD group and healthy control group，the carriers of V279F and I198T locus mutation （including heterozygous and homozygous mutations） had lower Lp-PLA2 activity and concentration than wild-type （P<0.05）. After adjusting for age，gender and blood lipid indicators，V279F and I198T were locus independent influencing factors for the decrease in Lp-PLA2 concentration （P<0.05），and V279F mutation was an independent influencing factor for the decrease in Lp-PLA2 activity （P<0.001）. Conclusions The SNP of PLA2G7 gene at rs1805018 and rs76863441 loci are related to Lp-PLA2 activity and concentration，and they are independent influencing factors for the decrease in Lp-PLA2 level.

Key words: Lipoprotein-associated phospholipase A2, Gene, Single nucleotide polymorphism, Concentration, Activity, Coronary artery disease

中图分类号:

R446.7

邵文琦, 周琰, 熊赢, 朱晶, 郭佳杰, 潘柏申, 王蓓丽, 郭玮. PLA2G7基因单核苷酸多态性与Lp-PLA2活性和质量浓度的相关性[J]. 检验医学, 2026, 41(6): 547-553.

SHAO Wenqi, ZHOU Yan, XIONG Ying, ZHU Jing, GUO Jiajie, PAN Baishen, WANG Beili, GUO Wei. Correlation between the single nucleotide polymorphism of PLA2G7 gene and the activity and concentration of Lp-PLA2[J]. Laboratory Medicine, 2026, 41(6): 547-553.

图/表 10

参考文献 18

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位点名称	引物（5'~3'）	探针（5'~3'）
rs1805017（R92H）	上游：CAAGAAATTTGCTAAGACCCCAAA 下游：AGGGCACCTTCTTGCGTTT	ATAATGATCACCTTGACACCC-FAM
rs1805018（I198T）	上游：GCAATGTACCTGCTCATTTCGT 下游：AAACATGGGTCAGATGAGGAAGG	CTGCAGAAACAGGGGACA-FAM
rs76863441（V279F）	上游：ACCTGAATCTCTGATCTTCA 下游：ATCATGCTTTTTCAAATAGGACTCT	TGGAGTGAATAACCGTTGCTCCA-FAM
rs1051931（V379A）	上游：AGACAGCTTTGTCCTGAGATTCAT 下游：TAGGGGTTCAGTCCACCAGA	AAATGCAGCTATTGATCTTAGCAAC-FAM

位点名称	引物（5'~3'）	探针（5'~3'）
rs1805017（R92H）	上游：CAAGAAATTTGCTAAGACCCCAAA 下游：AGGGCACCTTCTTGCGTTT	ATAATGATCACCTTGACACCC-FAM
rs1805018（I198T）	上游：GCAATGTACCTGCTCATTTCGT 下游：AAACATGGGTCAGATGAGGAAGG	CTGCAGAAACAGGGGACA-FAM
rs76863441（V279F）	上游：ACCTGAATCTCTGATCTTCA 下游：ATCATGCTTTTTCAAATAGGACTCT	TGGAGTGAATAACCGTTGCTCCA-FAM
rs1051931（V379A）	上游：AGACAGCTTTGTCCTGAGATTCAT 下游：TAGGGGTTCAGTCCACCAGA	AAATGCAGCTATTGATCTTAGCAAC-FAM

组别	例数	TC/（mmol·L^-1）	TG/（mmol·L^-1）	LDL-C/（mmol·L^-1）	HDL-C/（mmol·L^-1）	Lp-PLA2活性/（U·L^-1）	Lp-PLA2质量/（μg·L^-1）
正常对照组	100	4.66（4.21~4.99）	1.13（0.91~1.41）	2.70（2.33~3.18）	1.28（1.12~1.61）	413.00（337.53~479.20）	104.90（74.48~126.00）
CAD组	100	3.59（3.09~4.41）	1.63（1.11~2.38）	1.69（1.26~2.27）	1.03（0.92~1.16）	371.30（286.18~490.10）	97.70（74.20~126.80）
U值		2 200.50	2 932.00	1 837.00	2 169.00	4 162.50	4 829.50
P值		<0.001	<0.001	<0.001	<0.001	0.041	0.667

组别	例数	TC/（mmol·L^-1）	TG/（mmol·L^-1）	LDL-C/（mmol·L^-1）	HDL-C/（mmol·L^-1）	Lp-PLA2活性/（U·L^-1）	Lp-PLA2质量/（μg·L^-1）
正常对照组	100	4.66（4.21~4.99）	1.13（0.91~1.41）	2.70（2.33~3.18）	1.28（1.12~1.61）	413.00（337.53~479.20）	104.90（74.48~126.00）
CAD组	100	3.59（3.09~4.41）	1.63（1.11~2.38）	1.69（1.26~2.27）	1.03（0.92~1.16）	371.30（286.18~490.10）	97.70（74.20~126.80）
U值		2 200.50	2 932.00	1 837.00	2 169.00	4 162.50	4 829.50
P值		<0.001	<0.001	<0.001	<0.001	0.041	0.667

组别	例数	CC/ [例（%）]	CT/ [例（%）]	TT/ [例（%）]
正常对照组	100	64（64）	32（32）	4（4）
CAD组	100	59（59）	35（35）	6（6）
χ²值		0.738
P值		0.691