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Pregled bibliografske jedinice broj: 1259267

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution

(CHD Exome+ Consortium ; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ; EPIC-CVD Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; InterAct ; ReproGen Consortium ; T2D-Genes Consortium ; The MAGIC Investigators) Justice, Anne E.; ...; Polašek, Ozren; ...; Lindgren, Cecilia M.; CHD Exome+ Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids Genetic Consortium et al.
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution // Nature Genetics, 51 (2019), 3; 452-469 doi:10.1038/s41588-018-0334-2 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1259267 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution

Autori
Justice, Anne E. ; ... ; Polašek, Ozren ; ... ; Lindgren, Cecilia M. ; CHD Exome+ Consortium ; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ; EPIC-CVD Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; InterAct ; ReproGen Consortium ; T2D-Genes Consortium ; The MAGIC Investigators

Kolaboracija
CHD Exome+ Consortium ; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ; EPIC-CVD Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; InterAct ; ReproGen Consortium ; T2D-Genes Consortium ; The MAGIC Investigators

Izvornik
Nature Genetics (1061-4036) 51 (2019), 3; 452-469

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

Ključne riječi
Animals ; Body Fat Distribution ; Body Mass Index ; Case-Control Studies ; Drosophila ; Exome ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Homeostasis ; Humans ; Lipids ; Male ; Proteins ; Risk Factors ; Waist-Hip Ratio

Sažetak
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228, 985 predicted coding and splice site variants available on exome arrays in up to 344, 369 individuals from five major ancestries (discovery) and 132, 177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low- frequency or rare (MAF <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.

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.ncbi.nlm.nih.gov www.nature.com

Citiraj ovu publikaciju:

(CHD Exome+ Consortium ; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ; EPIC-CVD Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; InterAct ; ReproGen Consortium ; T2D-Genes Consortium ; The MAGIC Investigators) Justice, Anne E.; ...; Polašek, Ozren; ...; Lindgren, Cecilia M.; CHD Exome+ Consortium; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; EPIC-CVD Consortium; ExomeBP Consortium; Global Lipids Genetic Consortium et al.
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution // Nature Genetics, 51 (2019), 3; 452-469 doi:10.1038/s41588-018-0334-2 (međunarodna recenzija, članak, znanstveni)
(CHD Exome+ Consortium ; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ; EPIC-CVD Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; InterAct ; ReproGen Consortium ; T2D-Genes Consortium ; The MAGIC Investigators) (CHD Exome+ Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, InterAct, ReproGen Consortium, T2D-Genes Consortium, The MAGIC Investigators) Justice, A., ..., Polašek, O., ..., Lindgren, C., CHD Exome+ Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium & Global Lipids Genetic Consortium et al. (2019) Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution. Nature Genetics, 51 (3), 452-469 doi:10.1038/s41588-018-0334-2.
@article{article, author = {Justice, Anne E. and Pola\v{s}ek, Ozren and Lindgren, Cecilia M.}, year = {2019}, pages = {452-469}, DOI = {10.1038/s41588-018-0334-2}, keywords = {Animals, Body Fat Distribution, Body Mass Index, Case-Control Studies, Drosophila, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Homeostasis, Humans, Lipids, Male, Proteins, Risk Factors, Waist-Hip Ratio}, journal = {Nature Genetics}, doi = {10.1038/s41588-018-0334-2}, volume = {51}, number = {3}, issn = {1061-4036}, title = {Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution}, keyword = {Animals, Body Fat Distribution, Body Mass Index, Case-Control Studies, Drosophila, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Homeostasis, Humans, Lipids, Male, Proteins, Risk Factors, Waist-Hip Ratio} }
@article{article, author = {Justice, Anne E. and Pola\v{s}ek, Ozren and Lindgren, Cecilia M.}, year = {2019}, pages = {452-469}, DOI = {10.1038/s41588-018-0334-2}, keywords = {Animals, Body Fat Distribution, Body Mass Index, Case-Control Studies, Drosophila, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Homeostasis, Humans, Lipids, Male, Proteins, Risk Factors, Waist-Hip Ratio}, journal = {Nature Genetics}, doi = {10.1038/s41588-018-0334-2}, volume = {51}, number = {3}, issn = {1061-4036}, title = {Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body- fat distribution}, keyword = {Animals, Body Fat Distribution, Body Mass Index, Case-Control Studies, Drosophila, Exome, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Homeostasis, Humans, Lipids, Male, Proteins, Risk Factors, Waist-Hip Ratio} }

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
  • Nature Index

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