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Genotype-Phenotype Low-Density Lipoprotein Cholesterol Discordance and Coronary Artery Disease Risk.

作者信息

Shankar Adyant, Truong Buu, Koyama Satoshi, Paruchuri Kaavya, Patel Aniruddh, Peloso Gina M, Hornsby Whitney, Natarajan Pradeep

机构信息

Stanford University School of Medicine, Stanford, California, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA; Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

出版信息

JACC Adv. 2025 May;4(5):101677. doi: 10.1016/j.jacadv.2025.101677. Epub 2025 Apr 25.

DOI:10.1016/j.jacadv.2025.101677
PMID:40286383
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12102501/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8b/12102501/8e2fec40a0d0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8b/12102501/8e2fec40a0d0/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf8b/12102501/8e2fec40a0d0/gr1.jpg

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本文引用的文献

1
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.对超过 66000 个人的血脂水平进行全基因组序列分析。
Nat Commun. 2022 Oct 11;13(1):5995. doi: 10.1038/s41467-022-33510-7.
2
Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.多基因对单基因家族性高胆固醇血症患者低密度脂蛋白胆固醇水平和心血管风险的贡献。
Circ Genom Precis Med. 2020 Oct;13(5):515-523. doi: 10.1161/CIRCGEN.120.002919. Epub 2020 Aug 13.
3
The UK Biobank resource with deep phenotyping and genomic data.
英国生物银行资源库，具有深度表型和基因组数据。
Nature. 2018 Oct;562(7726):203-209. doi: 10.1038/s41586-018-0579-z. Epub 2018 Oct 10.
4
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.对重度高胆固醇血症患者进行家族性高胆固醇血症基因测序的诊断率及临床应用价值
J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.
5
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.导致家族性高胆固醇血症的突变：对哥本哈根普通人群研究中的 98098 个人进行筛查，估计患病率为 1/217。
Eur Heart J. 2016 May 1;37(17):1384-94. doi: 10.1093/eurheartj/ehw028. Epub 2016 Feb 22.