Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits.
Where this comes from
- Record sourced from PubMed, PMID 30405126.
- Also identified by DOI 10.1038/s41467-018-07070-8 and PMC identifier 6220258.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify a role for rare regulatory variation, which has hitherto been missed. We find evidence of rare variant burdens that are independent of established common variant signals (ADIPOQ and adiponectin, P = 4.2 × 10<sup>-8</sup>; APOC3 and triglyceride levels, P = 1.5 × 10<sup>-26</sup>), and identify replicating evidence for a burden associated with triglyceride levels in FAM189B (P = 2.2 × 10<sup>-8</sup>), indicating a role for this gene in lipid metabolism.
Medical subject headings
- Alleles
- Quantitative Trait, Heritable
- Whole Genome Sequencing