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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Nature genetics, 2020-12, Vol.52 (12), p.1314-1332
2020

Details

Autor(en) / Beteiligte
Titel
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
Ist Teil von
  • Nature genetics, 2020-12, Vol.52 (12), p.1314-1332
Ort / Verlag
United States: Nature Publishing Group
Erscheinungsjahr
2020
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
  • Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10 ), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants 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 (for example, GATA5 and 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.
Sprache
Englisch
Identifikatoren
ISSN: 1061-4036, 1546-1718
eISSN: 1546-1718
DOI: 10.1038/s41588-020-00713-x
Titel-ID: cdi_pubmed_primary_33230300
Format
–
Schlagworte
Alleles, Basic Medicine, Blood pressure, Blood Pressure - genetics, Cardiac and Cardiovascular Systems, Chromatin, Clinical Medicine, Fetuses, GATA5 Transcription Factor - genetics, Gene frequency, Gene Frequency - genetics, Genes, Genetic aspects, Genetic Predisposition to Disease - genetics, Genetic variation, Genome-Wide Association Study, Genomes, Genotype, Health aspects, Humans, Hypertension - genetics, Identification and classification, Kardiologi, Klinisk medicin, Life Sciences, Loci, Management, Medical and Health Sciences, Medical Genetics, Medicin och hälsovetenskap, Medicinsk genetik, Medicinska och farmaceutiska grundvetenskaper, Meta-analysis, Mutation - genetics, Nucleotides, Phospholipase C beta - genetics, Polymorphism, Single Nucleotide - genetics, Regulation, Secondary data analysis

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