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识别与人类冠状动脉疾病相关的遗传易感性位点。

Identifying genetic susceptibility loci associated with human coronary artery disease.

作者信息

Zahid Aqsa, Batool Andleeb, Wajid Abdul, Wu Yurong, Liang Chun, Khan Muhammad Ajmal, Ullah Amin, Sahibzada Kashif Iqbal, Xue Hong

机构信息

Department of Zoology, GC University, Lahore, Pakistan.

Baluchistan Universities of Information Technology, Engineering and Management Science, Quetta, Pakistan.

出版信息

PLoS One. 2025 Jan 9;20(1):e0315460. doi: 10.1371/journal.pone.0315460. eCollection 2025.

DOI:10.1371/journal.pone.0315460
PMID:39787106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11717286/
Abstract

Coronary artery disease (CAD) is a multigenic condition influenced by both nature and nurture (60% to 40%). Prognosis of CAD is based on familial patterns. This study examined and analyzed the susceptibility of CAD to genetic variants in various Pakistani families. A total of 50 families, 308 participants (79 affected and 229 unaffected were genotyped for NOS3 (rs1799983, rs2070744), PON1 (rs662), LPA-PLA2 (rs105193, rs1805017), APOE (rs429358, rs7412), PCSK9 (rs505151), MEF2A (rs325400), TNF (rs1800629) and LDLR (rs1122608, rs2228671) genes. The family-based association in CAD associated genes SNPs were NOS3 (rs1799983), PON1 (rs662), LPA-PLA2 (rs1805017), MEF2A (rs325400), and LDLR (rs1122608, rs222867) showed transmission within families p≤ 0.05 whereas NOS3 (rs2070744), APOE (rs429358, rs7412) and TNF (rs1800629) showed no association TDT asymptotic p-value >0.05. In DFAM and QFAM test NOS3 (rs1799983), PON1 (rs662), MEF2A (rs325400), and LDLR (rs1122608, rs222867) showed positive association p≤ 0.05 in both whereas NOS3 (rs2070744), APOE (rs429358, rs7412), LPA-PLA2 (rs1805017) and TNF (rs1800629) showed low risk of transmission asymptotic p-value >0.05 in DFAM but NOS3(rs2070744), APOE(rs7412), LPA-PLAG2(rs1805017) also showed association p≤ 0.05 whereas APOE (rs429358) and TNF (rs1800629) showed no association EMP1 p-value >0.05 in QFAM. In linkage analysis Chromosome 6 (Position 70.810): LOD = 3.16, Chromosome 7 (Position 107.190): LOD = 3.16, and chromosome 19 (Position 31.470): LOD = 3.90 also showed significant association with disease as p < 0.05. This discovery enhances the understanding about genetic variants of CAD and also facilitates early detection, targeted interventions, pattern of inheritance in population. This ultimately improving patient outcomes and guiding future research to highlight its significance as a potential diagnostic marker.

摘要

冠状动脉疾病（CAD）是一种受遗传和环境因素共同影响的多基因疾病（遗传因素占60%，环境因素占40%）。CAD的预后基于家族模式。本研究检测并分析了巴基斯坦不同家族中CAD对基因变异的易感性。共纳入50个家族的308名参与者（79名患者和229名非患者），对其进行了NOS3（rs1799983、rs2070744）、PON1（rs662）、LPA-PLA2（rs105193、rs1805017）、APOE（rs429358、rs7412）、PCSK9（rs505151）、MEF2A（rs325400）、TNF（rs1800629）和LDLR（rs1122608、rs2228671）基因的基因分型。CAD相关基因单核苷酸多态性（SNP）的家族关联性分析显示，NOS3（rs1799983）、PON1（rs662）、LPA-PLA2（rs1805017）、MEF2A（rs325400）和LDLR（rs1122608、rs222867）在家族内的传递p≤0.05，而NOS3（rs2070744）、APOE（rs429358、rs7412）和TNF（rs1800629）未显示关联性，传递不平衡检验（TDT）渐近p值>0.05。在DFAM和QFAM检验中，NOS3（rs1799983）、PON1（rs662）、MEF2A（rs325400）和LDLR（rs1122608、rs222867）在两者中均显示正相关，p≤0.05；而NOS3（rs2070744）、APOE（rs429358、rs7412）、LPA-PLA2（rs1805017）和TNF（rs1800629）在DFAM中显示低传递风险，渐近p值>0.05，但NOS3（rs2070744）、APOE（rs7412）、LPA-PLAG2（rs1805017）也显示关联性，p≤0.05，而APOE（rs429358）和TNF（rs1800629）在QFAM中未显示关联性，EMP1 p值>0.05。连锁分析显示，6号染色体（位置70.810）：LOD = 3.16，7号染色体（位置107.190）：LOD = 3.16，19号染色体（位置31.470）：LOD = 3.90也与疾病显示出显著关联性，p < 0.05。这一发现增强了对CAD基因变异的理解，也有助于早期检测、靶向干预以及人群中的遗传模式研究。这最终改善了患者的预后，并指导未来的研究以突出其作为潜在诊断标志物的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/ab61f6900f66/pone.0315460.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/aa9cf6bc3083/pone.0315460.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/6938c0664647/pone.0315460.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/fbf42442da4b/pone.0315460.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/ab61f6900f66/pone.0315460.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/aa9cf6bc3083/pone.0315460.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/6938c0664647/pone.0315460.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/fbf42442da4b/pone.0315460.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c3fd/11717286/ab61f6900f66/pone.0315460.g004.jpg

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