医学
冠状动脉疾病
单核苷酸多态性
内科学
优势比
连锁不平衡
SNP公司
等位基因
胃肠病学
内分泌学
遗传学
基因
基因型
生物
作者
Michael M. Page,Katrina L. Ellis,Dick C. Chan,Jing Pang,Amanda J. Hooper,Damon A. Bell,John R. Burnett,Eric K. Moses,Gerald F. Watts
标识
DOI:10.1016/j.jacl.2022.05.065
摘要
Background Increased risk of coronary artery disease (CAD) in familial hypercholesterolaemia (FH) is modified by factors beyond defects in the low-density lipoprotein receptor pathway. The rs1250229-T single nucleotide polymorphism (SNP) in the FN1 gene is associated with CAD in genome-wide association studies and is in linkage disequilibrium with another SNP (rs1250259-T) in FN1 that is associated with decrease fibronectin secretion. Objective We investigated whether rs1250229-T was also associated with prevalent CAD in patients with genetically confirmed FH. Methods We collected clinical data from 256 patients with genetically confirmed FH. The FN1 rs1250229 SNP was genotyped on a SEQUENOM platform. The association between rs1250229-T and prevalent CAD was assessed using simple and multiple regression analyses. Results In patients with FH, the FN1 rs1250229-T (minor) allele was a significant negative predictor of prevalent CAD (odds ratio [OR] 0.353; 95% confidence interval [CI] 0.193 - 0.647; P = 0.001). FN1 rs1250229-T remained a significant predictor of prevalent CAD after adjusting for age, sex, obesity, hypertension, smoking status and lipoprotein(a) concentration (OR 0.200; 95% CI 0.091 - 0.441; P < 0.001). Conclusion The FN1 rs1250229-T allele is inversely associated with CAD in patients with genetically confirmed FH, independently of traditional risk factors. While this finding requires replication, it suggests that the biology of fibronectin may contribute to variation in the risk of CAD in FH.
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