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Pregled bibliografske jedinice broj: 1251720

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

(LifeLines Cohort Study ; EPIC-CVD ; EPIC-InterAct ; Understanding Society Scientific Group ; Million Veteran Program) Surendran, Praveen; Feofanova, Elena, V; Lahrouchi, Najim; Ntalla, Ioanna; Karthikeyan, Savita; Cook, James; …; Polašek, Ozren; …; Howson, Joanna M. M. et al.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals // Nature Genetics, 52 (2020), 12; 1314-1332 doi:10.1038/s41588-020-00713-x (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1251720 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Autori
Surendran, Praveen ; Feofanova, Elena, V ; Lahrouchi, Najim ; Ntalla, Ioanna ; Karthikeyan, Savita ; Cook, James ; … ; Polašek, Ozren ; … ; Howson, Joanna M. M. ; LifeLines Cohort Study ; EPIC-CVD ; EPIC-InterAct ; Understanding Society Scientific Group ; Million Veteran Program

Kolaboracija
LifeLines Cohort Study ; EPIC-CVD ; EPIC-InterAct ; Understanding Society Scientific Group ; Million Veteran Program

Izvornik
Nature Genetics (1061-4036) 52 (2020), 12; 1314-1332

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
GENOME-WIDE ASSOCIATION ; MENDELIAN RANDOMIZATION ; COMMON VARIANTS ; IDENTIFIES COMMON ; LOCI ; RISK ; FREQUENCY ; TRAITS ; HYPERTENSION ; GENETICS

Sažetak
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 similar 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 x 10(-8)), 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 similar to 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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

(LifeLines Cohort Study ; EPIC-CVD ; EPIC-InterAct ; Understanding Society Scientific Group ; Million Veteran Program) Surendran, Praveen; Feofanova, Elena, V; Lahrouchi, Najim; Ntalla, Ioanna; Karthikeyan, Savita; Cook, James; …; Polašek, Ozren; …; Howson, Joanna M. M. et al.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals // Nature Genetics, 52 (2020), 12; 1314-1332 doi:10.1038/s41588-020-00713-x (međunarodna recenzija, članak, znanstveni)
(LifeLines Cohort Study ; EPIC-CVD ; EPIC-InterAct ; Understanding Society Scientific Group ; Million Veteran Program) (LifeLines Cohort Study, EPIC-CVD, EPIC-InterAct, Understanding Society Scientific Group, Million Veteran Program) Surendran, P., Feofanova, Elena, V, Lahrouchi, N., Ntalla, I., Karthikeyan, S., Cook, J., …, Polašek, O., … & Howson, J. (2020) Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals. Nature Genetics, 52 (12), 1314-1332 doi:10.1038/s41588-020-00713-x.
@article{article, author = {Surendran, Praveen and Lahrouchi, Najim and Ntalla, Ioanna and Karthikeyan, Savita and Cook, James and Pola\v{s}ek, Ozren and Howson, Joanna M. M.}, year = {2020}, pages = {1314-1332}, DOI = {10.1038/s41588-020-00713-x}, keywords = {GENOME-WIDE ASSOCIATION, MENDELIAN RANDOMIZATION, COMMON VARIANTS, IDENTIFIES COMMON, LOCI, RISK, FREQUENCY, TRAITS, HYPERTENSION, GENETICS}, journal = {Nature Genetics}, doi = {10.1038/s41588-020-00713-x}, volume = {52}, number = {12}, issn = {1061-4036}, title = {Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals}, keyword = {GENOME-WIDE ASSOCIATION, MENDELIAN RANDOMIZATION, COMMON VARIANTS, IDENTIFIES COMMON, LOCI, RISK, FREQUENCY, TRAITS, HYPERTENSION, GENETICS} }
@article{article, author = {Surendran, Praveen and Lahrouchi, Najim and Ntalla, Ioanna and Karthikeyan, Savita and Cook, James and Pola\v{s}ek, Ozren and Howson, Joanna M. M.}, year = {2020}, pages = {1314-1332}, DOI = {10.1038/s41588-020-00713-x}, keywords = {GENOME-WIDE ASSOCIATION, MENDELIAN RANDOMIZATION, COMMON VARIANTS, IDENTIFIES COMMON, LOCI, RISK, FREQUENCY, TRAITS, HYPERTENSION, GENETICS}, journal = {Nature Genetics}, doi = {10.1038/s41588-020-00713-x}, volume = {52}, number = {12}, issn = {1061-4036}, title = {Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals}, keyword = {GENOME-WIDE ASSOCIATION, MENDELIAN RANDOMIZATION, COMMON VARIANTS, IDENTIFIES COMMON, LOCI, RISK, FREQUENCY, TRAITS, HYPERTENSION, GENETICS} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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