在一项跨人群研究中，KCNJ2 的罕见变异与低密度脂蛋白胆固醇水平有关。

IF 4.7 2区医学 Q1 GENETICS & HEREDITY NPJ Genomic Medicine Pub Date : 2024-06-28 DOI:10.1038/s41525-024-00417-9

Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D Spector, Pirro G Hysi, Khalid A Fakhro, Mario Falchi

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引用次数: 0

摘要

我们利用英国 1751 名受试者和卡塔尔 2587 名受试者的全基因组测序数据，发现绘制在酸味相关基因 KCNJ2 上的罕见变异与低密度脂蛋白胆固醇（LDL-C，P = 2.10 × 10-12）降低以及膳食反式脂肪摄入量减少 22% 有关。这项研究发现了一个新的低密度脂蛋白胆固醇候选罕见基因座，为了解心血管疾病的复杂性状的遗传结构提供了新的视角。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.

Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 2.10 × 10^-12) and with a 22% decreased dietary trans-fat intake. This study identifies a novel candidate rare locus for LDL-C, adding insights into the genetic architecture of a complex trait implicated in cardiovascular disease.

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来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.