Population genomics of cardiometabolic traits: design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium.
PLoS ONE 2013 ; 8: e71345.
Shah T, Engmann J, Dale C, Shah S, White J, Giambartolomei C, McLachlan S, Zabaneh D, Cavadino A, Finan C, Wong A, Amuzu A, Ong K, Gaunt T, Holmes MV, Warren H, Swerdlow DI, Davies TL, Drenos F, Cooper J, Sofat R, Caulfield M, Ebrahim S, Lawlor DA, Talmud PJ, Humphries SE, Power C, Hyppönen E, Richards M, Hardy R, Kuh D, Wareham NJ, Langenberg C, Ben-Shlomo Y, Day IN, Whincup P, Morris R, Strachan MW, Price J, Kumari M, Kivimaki M, Plagnol V, Dudbridge F, Whittaker JC, Casas JP, Hingorani AD
DOI : 10.1371/journal.pone.0071345
PubMed ID : 23977022
PMCID : PMC3748096
Abstract
Substantial advances have been made in identifying common genetic variants influencing cardiometabolic traits and disease outcomes through genome wide association studies. Nevertheless, gaps in knowledge remain and new questions have arisen regarding the population relevance, mechanisms, and applications for healthcare. Using a new high-resolution custom single nucleotide polymorphism (SNP) array (Metabochip) incorporating dense coverage of genomic regions linked to cardiometabolic disease, the University College-London School-Edinburgh-Bristol (UCLEB) consortium of highly-phenotyped population-based prospective studies, aims to: (1) fine map functionally relevant SNPs; (2) precisely estimate individual absolute and population attributable risks based on individual SNPs and their combination; (3) investigate mechanisms leading to altered risk factor profiles and CVD events; and (4) use Mendelian randomisation to undertake studies of the causal role in CVD of a range of cardiovascular biomarkers to inform public health policy and help develop new preventative therapies.