AI Article Synopsis
- Conducted a whole-genome sequencing analysis on 962 individuals from the CHARGE studies to investigate the genetic basis of high-density lipoprotein cholesterol (HDL-C) levels.
- Found that common genetic variations play a larger role in heritability of HDL-C levels compared to rare variants, and identified individuals with extreme HDL-C levels through screening for mendelian variants related to lipid disorders.
- Emphasized the importance of studying both regulatory and non-protein-coding regions of the genome, as well as protein-coding areas, to better understand HDL-C levels.
Article Abstract
We describe initial steps for interrogating whole-genome sequence data to characterize the genetic architecture of a complex trait, levels of high-density lipoprotein cholesterol (HDL-C). We report whole-genome sequencing and analysis of 962 individuals from the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) studies. From this analysis, we estimate that common variation contributes more to heritability of HDL-C levels than rare variation, and screening for mendelian variants for dyslipidemia identified individuals with extreme HDL-C levels. Whole-genome sequencing analyses highlight the value of regulatory and non-protein-coding regions of the genome in addition to protein-coding regions.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030301 | PMC |
| http://dx.doi.org/10.1038/ng.2671 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!