Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Open accessAbstract
The effects of alleles in many genes are believed to contribute to common complex diseases such as hypertension. Whether risk alleles comprise a small number of common variants or many rare independent mutations at trait loci is largely unknown. We screened members of the Framingham Heart Study (FHS) for variation in three genes-SLC12A3 (NCCT), SLC12A1 (NKCC2) and KCNJ1 (ROMK)-causing rare recessive diseases featuring large reductions in blood pressure. Using comparative genomics, genetics and biochemistry, we identified subjects with mutations proven or inferred to be functional. These mutations, all heterozygous and rare, produce clinically significant blood pressure reduction and protect from development of hypertension. Our findings implicate many rare alleles that alter renal salt handling in blood pressure variation in the general population, and identify alleles with health benefit that are nonetheless under purifying selection. These findings have implications for the genetic architecture of hypertension and other common complex traits.
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An excess of rare mutations in renal salt-handling genes has been associated with lower blood pressure and protection against hypertension.
“An excess of rare mutations in renal salt-handling genes has been associated with lower blood pressure and protection against hypertension (131).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [131]
Early data on rare single-nucleotide and structural variants indicate that similarly large samples will be needed to achieve the levels of statistical significance required to detect rare events in a genome-wide search.
“Moreover, early data on rare single-nucleotide (130, 131) and structural variants (133, 134, 136) indicate that similarly large samples will be needed to achieve the levels of statistical significance required to detect rare events in a genome-wide search.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [131]
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- Authors
- Ji, W., Foo, J. N., O'Roak, B. J., Zhao, H., Larson, M. G., Simon, D. B., Newton-Cheh, C., State, M. W., Levy, D., & Lifton, R. P.
- Affiliations
- Howard Hughes Medical Institute (US)
- Yale University (US)
- Boston University (US)
- National Heart, Lung, and Blood Institute (US)
- Corresponding author
- Lifton, Richard P
- ORCID
- Venue
- Nature Genetics
- Published
- 2008-04-06
- Volume
- 40
- Issue
- 5
- Pages
- 592-599
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3766631
- OpenAlex
- W2161935988
- Cited by
- 812
- References
- 58
- Citations by year
- 2026: 9 · 2025: 9 · 2024: 17 · 2023: 19 · 2022: 23 · 2021: 31 · 2020: 29 · 2019: 31 · 2018: 32 · 2017: 33 · 2016: 54 · 2015: 47 · 2014: 57 · 2013: 64 · 2012: 82
- FWCI
- 66.17
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (n01hc25195-41-0-1)
- National Heart, Lung, and Blood Institute (N01‐HC25195, P50HL055007, N01-HC-025195)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Blood Pressure and Hypertension Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Keywords
- rare mutations, blood pressure variability, hypertension, SLC12A3, SLC12A1, KCNJ1, NKCC2, ROMK, heterozygous mutation, purifying selection, genetic architecture of complex traits, Framingham Heart Study
- MeSH terms
- Adult, Amino Acid Sequence, Blood Pressure, Female, Heterozygote, Humans, Hypertension, Kidney, Male, Middle Aged, Molecular Sequence Data, Mutation, Receptors, Drug, Sodium Chloride, Cohort Studies, Prevalence, Amino Acid Substitution, Potassium Channels, Inwardly Rectifying, Symporters, Sodium-Potassium-Chloride Symporters, Solute Carrier Family 12, Member 1, Solute Carrier Family 12, Member 3
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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