Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium

Mol Psychiatry. 2019 Dec;24(12):1920-1932. doi: 10.1038/s41380-018-0079-4. Epub 2018 Jul 9.

Abstract

Macronutrient intake, the proportion of calories consumed from carbohydrate, fat, and protein, is an important risk factor for metabolic diseases with significant familial aggregation. Previous studies have identified two genetic loci for macronutrient intake, but incomplete coverage of genetic variation and modest sample sizes have hindered the discovery of additional loci. Here, we expanded the genetic landscape of macronutrient intake, identifying 12 suggestively significant loci (P < 1 × 10-6) associated with intake of any macronutrient in 91,114 European ancestry participants. Four loci replicated and reached genome-wide significance in a combined meta-analysis including 123,659 European descent participants, unraveling two novel loci; a common variant in RARB locus for carbohydrate intake and a rare variant in DRAM1 locus for protein intake, and corroborating earlier FGF21 and FTO findings. In additional analysis of 144,770 participants from the UK Biobank, all identified associations from the two-stage analysis were confirmed except for DRAM1. Identified loci might have implications in brain and adipose tissue biology and have clinical impact in obesity-related phenotypes. Our findings provide new insight into biological functions related to macronutrient intake.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aging / genetics*
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO / genetics
  • Cohort Studies
  • Energy Intake / genetics
  • Female
  • Fibroblast Growth Factors / genetics
  • Genetic Loci / genetics
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study
  • Genomics / methods
  • Genotype
  • Heart Diseases / epidemiology
  • Heart Diseases / genetics*
  • Humans
  • Male
  • Membrane Proteins / genetics
  • Middle Aged
  • Nutrients*
  • Obesity / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Receptors, Retinoic Acid / genetics
  • White People / genetics

Substances

  • DRAM1 protein, human
  • FGF22 protein, human
  • Membrane Proteins
  • Receptors, Retinoic Acid
  • retinoic acid receptor beta
  • Fibroblast Growth Factors
  • Alpha-Ketoglutarate-Dependent Dioxygenase FTO
  • FTO protein, human