Meta-analysis identifies rare variants associated with blood pressure regulation

Meta-analysis identifies rare variants associated with blood pressure regulation


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Access through your institution Buy or subscribe Genetic studies of variants associated with blood pressure (BP) traits have mainly focused on common variants. A new meta-analysis of up to


~1.32 million individuals has now identified 87 rare single-nucleotide variants (SNVs) associated with BP regulation, some of which exhibited effects much larger than those of common


variants. To investigate the role of rare SNVs in BP regulation, the researchers combined studies from their two previous exome array reports with additional studies, including the UK 


Biobank study. These analyses identified 106 new genomic regions associated with BP. Of the 87 rare variants, 32 were in new BP-associated loci and 55 were within regions known to be


associated with BP. The average effect of the rare variants on BP was ~8-times larger than that of common variants. “Rare variants have been proposed as an approach to help prioritize


candidate causal genes more readily than common variants, and our study illustrates this by identifying rare variants at previously hypothesized causal genes, such as _AGT_,” says Joanna 


Howson. “Importantly, new candidate causal genes were implicated by the rare variants, including _PLCB3_ and _GATA5_.” This is a preview of subscription content, access via your institution


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FAQs * Contact customer support REFERENCES ORIGINAL ARTICLE * Surendran, P. et al. Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million


individuals. _Nat. Genet._ 52, 1314–1332 (2020) Article  Google Scholar  Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Nature Reviews Nephrology


http://www.nature.com/nrneph Susan J. Allison Authors * Susan J. Allison View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR


Correspondence to Susan J. Allison. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Allison, S.J. Meta-analysis identifies rare variants associated with


blood pressure regulation. _Nat Rev Nephrol_ 17, 152 (2021). https://doi.org/10.1038/s41581-020-00386-z Download citation * Published: 07 December 2020 * Issue Date: March 2021 * DOI:


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