Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
By
Arthur Gilly,
Daniel Suveges,
Karoline Kuchenbaecker,
Martin Pollard,
Lorraine Southam,
Konstantinos Hatzikotoulas,
Aliki-Eleni Farmaki,
Thea Bjornland,
Ryan Waples,
Emil V. R. Appel,
Elisabetta Casalone,
Giorgio Melloni,
Britt Kilian,
Nigel W Rayner,
Ioanna Ntalla,
Kousik Kundu,
Klaudia Walter,
John Danesh,
Adam S. Butterworth,
Inês Barroso,
Emmanouil Tsafantakis,
George Dedoussis,
Ida Moltke,
Eleftheria Zeggini
Posted 16 Mar 2018
bioRxiv DOI: 10.1101/283481
(published DOI: 10.1038/s41467-018-07070-8)
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1,457 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 overlapping with, and mostly independent of established common variant signals (ADIPOQ and adiponectin, P=4.2x10-8; APOC3 and triglyceride levels, P=1.58x10-26; GGT1 and gamma-glutamyltransferase, P=2.3x10-6; UGT1A9 and bilirubin, P=1.9x10-8), and identify replicating evidence for a burden associated with triglyceride levels in FAM189A (P=2.26x10-8), indicating a role for this gene in lipid metabolism.
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