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Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.


ABSTRACT: We investigated the influence of genetic variants on atherosclerosis using whole exome sequencing in cases and controls from the autopsy study "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)". We identified a PDAY case group with the highest total amounts of raised lesions (n?=?359) for comparisons with a control group with no detectable raised lesions (n?=?626). In addition to the standard exome capture, we included genome-wide proximal promoter regions that contain sequences that regulate gene expression. Our statistical analyses included single variant analysis for common variants (MAF?>?0.01) and rare variant analysis for low frequency and rare variants (MAF?

SUBMITTER: Hixson JE 

PROVIDER: S-EPMC5481334 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Whole Exome Sequencing to Identify Genetic Variants Associated with Raised Atherosclerotic Lesions in Young Persons.

Hixson James E JE   Jun Goo G   Shimmin Lawrence C LC   Wang Yizhi Y   Yu Guoqiang G   Mao Chunhong C   Warren Andrew S AS   Howard Timothy D TD   Heide Richard S Vander RSV   Van Eyk Jennifer J   Wang Yue Y   Herrington David M DM  

Scientific reports 20170622 1


We investigated the influence of genetic variants on atherosclerosis using whole exome sequencing in cases and controls from the autopsy study "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)". We identified a PDAY case group with the highest total amounts of raised lesions (n = 359) for comparisons with a control group with no detectable raised lesions (n = 626). In addition to the standard exome capture, we included genome-wide proximal promoter regions that contain sequences t  ...[more]

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