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Pregled bibliografske jedinice broj: 1251662

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

(Chd Exome Consortium ; Epic-Cvd Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; EPIC InterAct Consortium ; Interval Study ; ReproGen Consortium ; T2D-Genes Consortium ; MAGIC Investigators ; Understanding Society Scientific Group) Turcot, Valerie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia; Justice, Anne E.; Fine, Rebecca S.; …; Polašek, Ozren; …; Loos, Ruth J. F.
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity // Nature Genetics, 50 (2017), 1; 26-41 doi:10.1038/s41588-017-0011-x (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1251662 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Autori
Turcot, Valerie ; Lu, Yingchang ; Highland, Heather M. ; Schurmann, Claudia ; Justice, Anne E. ; Fine, Rebecca S. ; … ; Polašek, Ozren ; … ; Loos, Ruth J. F.

Kolaboracija
Chd Exome Consortium ; Epic-Cvd Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; EPIC InterAct Consortium ; Interval Study ; ReproGen Consortium ; T2D-Genes Consortium ; MAGIC Investigators ; Understanding Society Scientific Group

Izvornik
Nature Genetics (1061-4036) 50 (2017), 1; 26-41

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

Ključne riječi
GENOME-WIDE ASSOCIATION ; MELANOCORTIN-4 RECEPTOR GENE ; DONEPEZIL 23 MG ; FRAMESHIFT MUTATION ; GLUCOSE-HOMEOSTASIS ; HYPOTHALAMIC AMPK ; CODING VARIANTS ; BLOOD-PRESSURE ; RARE ; LOCI

Sažetak
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718, 734 individuals to discover rare and low- frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are similar to 10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed similar to 7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

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 click.endnote.com www.nature.com

Citiraj ovu publikaciju:

(Chd Exome Consortium ; Epic-Cvd Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; EPIC InterAct Consortium ; Interval Study ; ReproGen Consortium ; T2D-Genes Consortium ; MAGIC Investigators ; Understanding Society Scientific Group) Turcot, Valerie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia; Justice, Anne E.; Fine, Rebecca S.; …; Polašek, Ozren; …; Loos, Ruth J. F.
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity // Nature Genetics, 50 (2017), 1; 26-41 doi:10.1038/s41588-017-0011-x (međunarodna recenzija, članak, znanstveni)
(Chd Exome Consortium ; Epic-Cvd Consortium ; ExomeBP Consortium ; Global Lipids Genetic Consortium ; GoT2D Genes Consortium ; EPIC InterAct Consortium ; Interval Study ; ReproGen Consortium ; T2D-Genes Consortium ; MAGIC Investigators ; Understanding Society Scientific Group) (Chd Exome Consortium, Epic-Cvd Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, Interval Study, ReproGen Consortium, T2D-Genes Consortium, MAGIC Investigators, Understanding Society Scientific Group) Turcot, V., Lu, Y., Highland, H., Schurmann, C., Justice, A., Fine, R., …, Polašek, O., … & Loos, R. (2017) Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics, 50 (1), 26-41 doi:10.1038/s41588-017-0011-x.
@article{article, author = {Turcot, Valerie and Lu, Yingchang and Highland, Heather M. and Schurmann, Claudia and Justice, Anne E. and Fine, Rebecca S. and Pola\v{s}ek, Ozren and Loos, Ruth J. F.}, year = {2017}, pages = {26-41}, DOI = {10.1038/s41588-017-0011-x}, keywords = {GENOME-WIDE ASSOCIATION, MELANOCORTIN-4 RECEPTOR GENE, DONEPEZIL 23 MG, FRAMESHIFT MUTATION, GLUCOSE-HOMEOSTASIS, HYPOTHALAMIC AMPK, CODING VARIANTS, BLOOD-PRESSURE, RARE, LOCI}, journal = {Nature Genetics}, doi = {10.1038/s41588-017-0011-x}, volume = {50}, number = {1}, issn = {1061-4036}, title = {Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity}, keyword = {GENOME-WIDE ASSOCIATION, MELANOCORTIN-4 RECEPTOR GENE, DONEPEZIL 23 MG, FRAMESHIFT MUTATION, GLUCOSE-HOMEOSTASIS, HYPOTHALAMIC AMPK, CODING VARIANTS, BLOOD-PRESSURE, RARE, LOCI} }
@article{article, author = {Turcot, Valerie and Lu, Yingchang and Highland, Heather M. and Schurmann, Claudia and Justice, Anne E. and Fine, Rebecca S. and Pola\v{s}ek, Ozren and Loos, Ruth J. F.}, year = {2017}, pages = {26-41}, DOI = {10.1038/s41588-017-0011-x}, keywords = {GENOME-WIDE ASSOCIATION, MELANOCORTIN-4 RECEPTOR GENE, DONEPEZIL 23 MG, FRAMESHIFT MUTATION, GLUCOSE-HOMEOSTASIS, HYPOTHALAMIC AMPK, CODING VARIANTS, BLOOD-PRESSURE, RARE, LOCI}, journal = {Nature Genetics}, doi = {10.1038/s41588-017-0011-x}, volume = {50}, number = {1}, issn = {1061-4036}, title = {Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity}, keyword = {GENOME-WIDE ASSOCIATION, MELANOCORTIN-4 RECEPTOR GENE, DONEPEZIL 23 MG, FRAMESHIFT MUTATION, GLUCOSE-HOMEOSTASIS, HYPOTHALAMIC AMPK, CODING VARIANTS, BLOOD-PRESSURE, RARE, LOCI} }

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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