Imperial College London
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DrJamesPeters

Faculty of Medicine, Department of Immunology and Inflammation

Clinical Reader in Rheumatology
 
 
 
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j.peters

 
 
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Location

 

ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Surendran:2020:10.1038/s41588-020-00713-x,
author = {Surendran, P and Gao, H and Zhang, W and Evangelou, E and Poulter, N and Sever, PJ and Vergnaud, A and Chambers, JC and Elliott, P and Jarvelin, M-R and Kooner, JS and Howson, J},
doi = {10.1038/s41588-020-00713-x},
journal = {Nature Genetics},
pages = {1314--1332},
title = {Discovery of rare variants associated with blood pressure regulation trhough meta-analaysis of 1.3 million individuals},
url = {http://dx.doi.org/10.1038/s41588-020-00713-x},
volume = {52},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Genetic studies of blood pressure  (BP)  to date have mainly analyzed common variants  (minor allele frequency,  MAF >   0.05). In a meta-analysis of up to >1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (MAF≤ 0.01) variant BP associations (P <   5   ×   10-8),  of which 32 were in new  BP-associated loci and  55 were independent  BP-associated  SNVs within known  BP-associated regions.  Average effects of rare variants (44% coding) were ~8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci  (e.g.GATA5, PLCB3).  BP-associated variants  (including rare and common)  were enriched in regions of active chromatin in fetal tissues,  potentially linking fetal development with  BP  regulation in later life. Multivariable  Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic  BP  on large artery stroke.  Our study demonstrates the utility of rare variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
AU  - Surendran,P
AU  - Gao,H
AU  - Zhang,W
AU  - Evangelou,E
AU  - Poulter,N
AU  - Sever,PJ
AU  - Vergnaud,A
AU  - Chambers,JC
AU  - Elliott,P
AU  - Jarvelin,M-R
AU  - Kooner,JS
AU  - Howson,J
DO  - 10.1038/s41588-020-00713-x
EP  - 1332
PY  - 2020///
SN  - 1061-4036
SP  - 1314
TI  - Discovery of rare variants associated with blood pressure regulation trhough meta-analaysis of 1.3 million individuals
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/s41588-020-00713-x
UR  - https://www.nature.com/articles/s41588-020-00713-x
UR  - http://hdl.handle.net/10044/1/84048
VL  - 52
ER  -
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