Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers

PLoS Genet. 2014 Dec 4;10(12):e1004799. doi: 10.1371/journal.pgen.1004799. eCollection 2014 Dec.

Abstract

We previously used a single nucleotide polymorphism (SNP) in the CHRNA5-A3-B4 gene cluster associated with heaviness of smoking within smokers to confirm the causal effect of smoking in reducing body mass index (BMI) in a Mendelian randomisation analysis. While seeking to extend these findings in a larger sample we found that this SNP is associated with 0.74% lower body mass index (BMI) per minor allele in current smokers (95% CI -0.97 to -0.51, P = 2.00 × 10(-10)), but also unexpectedly found that it was associated with 0.35% higher BMI in never smokers (95% CI +0.18 to +0.52, P = 6.38 × 10(-5)). An interaction test confirmed that these estimates differed from each other (P = 4.95 × 10(-13)). This difference in effects suggests the variant influences BMI both via pathways unrelated to smoking, and via the weight-reducing effects of smoking. It would therefore be essentially undetectable in an unstratified genome-wide association study of BMI, given the opposite association with BMI in never and current smokers. This demonstrates that novel associations may be obscured by hidden population sub-structure. Stratification on well-characterized environmental factors known to impact on health outcomes may therefore reveal novel genetic associations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Body Mass Index*
  • Genome-Wide Association Study
  • Genotype
  • Health Status
  • Humans
  • Middle Aged
  • Multigene Family
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Receptors, Nicotinic / genetics*
  • Severity of Illness Index
  • Smoking / epidemiology
  • Smoking / genetics*
  • Weight Loss / genetics
  • Young Adult

Substances

  • CHRNA5 protein, human
  • CHRNB4 protein, human
  • Nerve Tissue Proteins
  • Receptors, Nicotinic
  • nicotinic receptor subunit alpha3