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Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.

https://arctichealth.org/en/permalink/ahliterature139444
Source
Arch Intern Med. 2010 Nov 8;170(20):1850-5
Publication Type
Article
Date
Nov-8-2010
Author
Haiqing Shen
Coleen M Damcott
Evadnie Rampersaud
Toni I Pollin
Richard B Horenstein
Patrick F McArdle
Patricia A Peyser
Lawrence F Bielak
Wendy S Post
Yen-Pei C Chang
Kathleen A Ryan
Michael Miller
John A Rumberger
Patrick F Sheedy
John Shelton
Jeffrey R O'Connell
Alan R Shuldiner
Braxton D Mitchell
Author Affiliation
Division of Endocrinology, Diabetes, and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
Source
Arch Intern Med. 2010 Nov 8;170(20):1850-5
Date
Nov-8-2010
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Apolipoprotein B-100 - blood - genetics
Calcinosis - blood - ethnology - genetics
Cholesterol, LDL - blood
Coronary Artery Disease - blood - ethnology - genetics
DNA - genetics
Denmark - ethnology
Female
Genome-Wide Association Study
Genotype
Humans
Male
Middle Aged
Mutation
Pennsylvania - epidemiology
Polymorphism, Single Nucleotide
Prevalence
Retrospective Studies
Risk factors
Young Adult
Abstract
Elevated low-density lipoprotein cholesterol (LDL-C) levels are a major cardiovascular disease risk factor. Genetic factors are an important determinant of LDL-C levels.
To identify single nucleotide polymorphisms associated with LDL-C and subclinical coronary atherosclerosis, we performed a genome-wide association study of LDL-C in 841 asymptomatic Amish individuals aged 20 to 80 years, with replication in a second sample of 663 Amish individuals. We also performed scanning for coronary artery calcification (CAC) in 1018 of these individuals.
From the initial genome-wide association study, a cluster of single nucleotide polymorphisms in the region of the apolipoprotein B-100 gene (APOB) was strongly associated with LDL-C levels (P
Notes
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Comment In: Arch Intern Med. 2011 Jun 13;171(11):1039-40; author reply 104021670376
PubMed ID
21059979 View in PubMed
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