Mosaic loss of chromosome Y is associated with common variation near TCL1A

Nat Genet. 2016 May;48(5):563-8. doi: 10.1038/ng.3545. Epub 2016 Apr 11.

Abstract

Mosaic loss of chromosome Y (mLOY) leading to gonosomal XY/XO commonly occurs during aging, particularly in smokers. We investigated whether mLOY was associated with non-hematological cancer in three prospective cohorts (8,679 cancer cases and 5,110 cancer-free controls) and genetic susceptibility to mLOY. Overall, mLOY was observed in 7% of men, and its prevalence increased with age (per-year odds ratio (OR) = 1.13, 95% confidence interval (CI) = 1.12-1.15; P < 2 × 10(-16)), reaching 18.7% among men over 80 years old. mLOY was associated with current smoking (OR = 2.35, 95% CI = 1.82-3.03; P = 5.55 × 10(-11)), but the association weakened with years after cessation. mLOY was not consistently associated with overall or specific cancer risk (for example, bladder, lung or prostate cancer) nor with cancer survival after diagnosis (multivariate-adjusted hazard ratio = 0.87, 95% CI = 0.73-1.04; P = 0.12). In a genome-wide association study, we observed the first example of a common susceptibility locus for genetic mosaicism, specifically mLOY, which maps to TCL1A at 14q32.13, marked by rs2887399 (OR = 1.55, 95% CI = 1.36-1.78; P = 1.37 × 10(-10)).

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aged
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Y*
  • Cohort Studies
  • DNA, Neoplasm
  • Gene Frequency
  • Genetic Variation
  • Genome-Wide Association Study
  • Humans
  • Male
  • Mosaicism
  • Proto-Oncogene Proteins / genetics*
  • Real-Time Polymerase Chain Reaction
  • Regression Analysis
  • Survival Analysis

Substances

  • DNA, Neoplasm
  • Proto-Oncogene Proteins
  • TCL1A protein, human