publication . Other literature type . Article . 2018

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

Turcot, Valérie; Lu, Yingchang; Highland, Heather M; Schurmann, Claudia; Justice, Anne E; Fine, Rebecca S; Bradfield, Jonathan P; Esko, Tõnu; Giri, Ayush; Graff, Mariaelisa; ...
English
  • Published: 01 Jan 2018
  • Publisher: Nature genetics
Abstract
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, non-coding variants from which pinpointing causal genes remains challenging. Here, we combined data from 718,734 individuals to discover rare and low-frequency (MAF<5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which eight in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2, ZNF169) newly implicated in human obesity, two (MC4R, KSR2) previously observed in extreme obesity, and two variants in GIPR. Effect sizes of rare va...
Subjects
free text keywords: CHD Exome+ Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, Syndrome, Proteins, GoT2D Genes Consortium, Animals, ReproGen Consortium, Female, Obesity, Energy Metabolism, Energy Intake, EPIC-CVD Consortium, Body Mass Index, Genetic Variation, Understanding Society Scientific Group, Gene Frequency, Drosophila, T2D-Genes Consortium, INTERVAL Study, EPIC InterAct Consortium, MAGIC Investigators, Adult, Humans, EPIC InterAct Consortium, Male
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Article . 2018
Provider: Apollo
http://dx.doi.org/10.17863/cam...
Other literature type . 2018
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publication . Other literature type . Article . 2018

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

Turcot, Valérie; Lu, Yingchang; Highland, Heather M; Schurmann, Claudia; Justice, Anne E; Fine, Rebecca S; Bradfield, Jonathan P; Esko, Tõnu; Giri, Ayush; Graff, Mariaelisa; ...