BibTex format
@article{Sung:2018:10.1016/j.ajhg.2018.01.015,
author = {Sung, YJ and Lehne, B and Scott, WR and Sever, P and Chambers, J and Froguel, P and Kooner, JS and Scott, J and Elliott, P and Chasman, DI},
doi = {10.1016/j.ajhg.2018.01.015},
journal = {American Journal of Human Genetics},
pages = {375--400},
title = {A large-scale multi-ancestry genome-wide study accounting for smoking bahavior identifies multiple genome-wide significant loci for systolic and diastolic blood pressure},
url = {http://dx.doi.org/10.1016/j.ajhg.2018.01.015},
volume = {102},
year = {2018}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Genome-wide association analysis advanced understanding of blood pressure (BP), a major risk factor for vascular conditions such as coronary heart disease and stroke. Accounting for smoking behavior may help identify novel BP loci and extend our knowledge of its genetic architecture. We performed genome-wide association meta-analyses of systolic and diastolic BP incorporating gene-smoking interactionsin 610,091 individuals. Stage 1 analysis examined ~18.8 million SNPs and small insertion/deletion variants in 129,913 individuals from four ancestries (European, African, Asian, and Hispanic) with follow-upanalysis of promising variants in 480,178 additional individuals from five ancestries. Weidentified 15 new loci that were genome-wide significant (P < 5×10-8) in Stage 1 and formally replicated in Stage 2. A combined Stage 1 and 2 meta-analysis identified 66 additional genome-wide significant loci ( 13, 35, and 18 loci in European, African and trans-ancestry, respectively). A total of 56 known BP loci were also identified by our results (P < 5×10-8).O f the newly identified loci, 10 showed significant interaction with smoking status, but none of them were replicated in Stage 2. Several loci were identified in African ancestry, highlighting the importance of genetic studies in diverse populations. The identified loci show strong evidence for regulatory features and support shared pathophysiology with cardiometabolic and addiction traits. They also highlight a role in BP regulation for biological candidates such as modulators of vascular structure and function (CDKN1B, BCAR1-CFDP1, PXDN, EEA1), ciliopathies(SDCCAG8,RPGRIP1L), telomere maintenance (TNKS, PINX1, AKTIP), and central dopaminergic signaling (MSRA, EBF2)
AU - Sung,YJ
AU - Lehne,B
AU - Scott,WR
AU - Sever,P
AU - Chambers,J
AU - Froguel,P
AU - Kooner,JS
AU - Scott,J
AU - Elliott,P
AU - Chasman,DI
DO - 10.1016/j.ajhg.2018.01.015
EP - 400
PY - 2018///
SN - 0002-9297
SP - 375
TI - A large-scale multi-ancestry genome-wide study accounting for smoking bahavior identifies multiple genome-wide significant loci for systolic and diastolic blood pressure
T2 - American Journal of Human Genetics
UR - http://dx.doi.org/10.1016/j.ajhg.2018.01.015
UR - http://hdl.handle.net/10044/1/56672
VL - 102
ER -
