SynthesisCirculation. Cardiovascular genetics2016
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Synthesis in Circulation. Cardiovascular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension.Hypertension (Dallas, Tex. : 1979) · 2022Pooled it
- Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.Journal of thrombosis and haemostasis : JTH · 2020Pooled it
- Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- SEMIPARAMETRIC LINEAR REGRESSION WITH AN INTERVAL-CENSORED COVARIATE IN THE ATHEROSCLEROSIS RISK IN COMMUNITIES STUDY.The annals of applied statistics · 2024Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Article
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- The future of sickle cell disease therapeutics rests in genomics.Disease models & mechanisms · 2023Article
- Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children.The American journal of clinical nutrition · 2022Article
- In Silico Analysis of Ion Channels and Their Correlation with Epithelial to Mesenchymal Transition in Breast Cancer.Cancers · 2022Article
- West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction.Molecular neurobiology · 2021Article
- Heart Disease and Stroke Statistics-2021 Update: A Report From the American Heart Association.Circulation · 2021Article
- Loss of Chloride Channel 6 (CLC-6) Affects Vascular Smooth Muscle Contractility and Arterial Stiffness via Alterations to Golgi Calcium Stores.Hypertension (Dallas, Tex. : 1979) · 2021Article
- Article
- Article
- Examination of the associations between mHypertension research : official journal of the Japanese Society of Hypertension · 2019Article
- Association ofInternational journal of hypertension · 2019Article
- Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation.Medicine · 2018Article
- Future Direction for Using Artificial Intelligence to Predict and Manage Hypertension.Current hypertension reports · 2018Review
Corrections and comments
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Authors and funding
36 authors at 11 institutions in 7 countries.
Funding
Abstract
backgroundRare genetic variants influence blood pressure (BP). METHODS AND
resultsWhole-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, <1%; ≈17 000 genes; statistical significance, P≤1.5×10(-6)) were evaluated for each trait and ancestry, followed by multiethnic meta-analyses. In the first-stage discovery, rare coding variants (splicing, stop-gain, stop-loss, nonsynonymous variants, or indels) in CLCN6 were associated with lower diastolic BP (cumulative minor allele frequency, 1.3%; β=-3.20; P=4.1×10(-6)) and were independent of a nearby common variant (rs17367504) previously associated with BP. CLCN6 rare variants were also associated with lower systolic BP (β=-4.11; P=2.8×10(-4)), mean arterial pressure (β=-3.50; P=8.9×10(-6)), and reduced hypertension risk (odds ratio, 0.72; P=0.017). Meta-analysis of the 2-stage discovery samples showed that CLCN6 was associated with lower diastolic BP at exome-wide significance (cumulative minor allele frequency, 1.1%; β=-3.30; P=5.0×10(-7)).
conclusionsThese findings implicate the effect of rare coding variants in CLCN6 in BP variation and offer new insights into BP regulation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.