Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.

Circ Cardiovasc Genet
Authors
Keywords
Abstract

BACKGROUND: Rare genetic variants influence blood pressure (BP).

METHODS AND RESULTS: Whole-exome sequencing was performed on DNA samples from 17 956 individuals of European ancestry and African ancestry (14 497, first-stage discovery and 3459, second-stage discovery) to examine the effect of rare variants on hypertension and 4 BP traits: systolic BP, diastolic BP, pulse pressure, and mean arterial pressure. Tests of ≈170 000 common variants (minor allele frequency, ≥1%; statistical significance, P≤2.9×10(-7)) and gene-based tests of rare variants (minor allele frequency,

CONCLUSIONS: These findings implicate the effect of rare coding variants in CLCN6 in BP variation and offer new insights into BP regulation.

Year of Publication
2016
Journal
Circ Cardiovasc Genet
Volume
9
Issue
1
Pages
64-70
Date Published
2016 Feb
ISSN
1942-3268
URL
DOI
10.1161/CIRCGENETICS.115.001215
PubMed ID
26658788
PubMed Central ID
PMC4771070
Links
Grant list
R01 CA082659 / CA / NCI NIH HHS / United States
HHSN268201100012C / HL / NHLBI NIH HHS / United States
N01HC55222 / HC / NHLBI NIH HHS / United States
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N02-HL-6-4278 / HL / NHLBI NIH HHS / United States
N01-HC-25195 / HC / NHLBI NIH HHS / United States
RC2 HL102419 / HL / NHLBI NIH HHS / United States
R01 HL103612 / HL / NHLBI NIH HHS / United States
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HHSN268201300046C / PHS HHS / United States
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HHSN268201100005C / HL / NHLBI NIH HHS / United States
HHSN268201100046C / PHS HHS / United States
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DK063491 / DK / NIDDK NIH HHS / United States
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HHSN268201100007I / HL / NHLBI NIH HHS / United States
N01-HC-95161 / HC / NHLBI NIH HHS / United States
UL1 TR000040 / TR / NCATS NIH HHS / United States
HHSN268201300046C / HL / NHLBI NIH HHS / United States
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U01 HG004738 / HG / NHGRI NIH HHS / United States
HHSN268201100002I / HL / NHLBI NIH HHS / United States
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N01 HC095163 / HC / NHLBI NIH HHS / United States
HHSN268201000012C / HL / NHLBI NIH HHS / United States
R01HL103612 / HL / NHLBI NIH HHS / United States
N01HC85079 / HL / NHLBI NIH HHS / United States
N01HC95166 / HL / NHLBI NIH HHS / United States
HHSN268201100006C / PHS HHS / United States
N01-HC-95166 / HC / NHLBI NIH HHS / United States
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