GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health

Nat Commun. 2021 Jul 7;12(1):4178. doi: 10.1038/s41467-021-24504-y.

Abstract

Mosaic loss of chromosome Y (LOY) in leukocytes is the most common form of clonal mosaicism, caused by dysregulation in cell-cycle and DNA damage response pathways. Previous genetic studies have focussed on identifying common variants associated with LOY, which we now extend to rarer, protein-coding variation using exome sequences from 82,277 male UK Biobank participants. We find that loss of function of two genes-CHEK2 and GIGYF1-reach exome-wide significance. Rare alleles in GIGYF1 have not previously been implicated in any complex trait, but here loss-of-function carriers exhibit six-fold higher susceptibility to LOY (OR = 5.99 [3.04-11.81], p = 1.3 × 10-10). These same alleles are also associated with adverse metabolic health, including higher susceptibility to Type 2 Diabetes (OR = 6.10 [3.51-10.61], p = 1.8 × 10-12), 4 kg higher fat mass (p = 1.3 × 10-4), 2.32 nmol/L lower serum IGF1 levels (p = 1.5 × 10-4) and 4.5 kg lower handgrip strength (p = 4.7 × 10-7) consistent with proposed GIGYF1 enhancement of insulin and IGF-1 receptor signalling. These associations are mirrored by a common variant nearby associated with the expression of GIGYF1. Our observations highlight a potential direct connection between clonal mosaicism and metabolic health.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Case-Control Studies
  • Chromosomes, Human, Y / genetics*
  • DNA Mutational Analysis
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / metabolism
  • Exome Sequencing
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Insulin / metabolism
  • Leukocytes
  • Loss of Function Mutation
  • Male
  • Middle Aged
  • Mosaicism*
  • Receptor, IGF Type 1 / metabolism
  • Signal Transduction / genetics

Substances

  • Carrier Proteins
  • GIGYF1 protein, human
  • IGF1R protein, human
  • Insulin
  • Receptor, IGF Type 1