Examining sex differences in pleiotropic effects for depression and smoking using polygenic and gene-region aggregation techniques

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):448-468. doi: 10.1002/ajmg.b.32748. Epub 2019 Jun 20.

Abstract

Sex differences in rates of depression are thought to contribute to sex differences in smoking initiation (SI) and number of cigarettes smoked per day (CPD). One hypothesis is that women smoke as a strategy to cope with anxiety and depression, and have difficulty quitting because of concomitant changes in hypothalamic-pituitary-adrenocortical (HPA) axis function during nicotine withdrawal states. Despite evidence of biological ties, research has not examined whether genetic factors that contribute to depression-smoking comorbidity differ by sex. We utilized two statistical aggregation techniques-polygenic scores (PGSs) and sequence kernel association testing-to assess the degree of pleiotropy between these behaviors and moderation by sex in the Health and Retirement Study (N = 8,086). At the genome-wide level, we observed associations between PGSs for depressive symptoms and SI, and measured SI and depressive symptoms (all p < .01). At the gene level, we found evidence of pleiotropy in FKBP5 for SI (p = .028), and sex-specific pleiotropy in females in NR3C2 (p = .030) and CHRNA5 (p = .025) for SI and CPD, respectively. Results suggest bidirectional associations between depression and smoking may be partially accounted for by shared genetic factors, and genetic variation in genes related to HPA-axis functioning and nicotine dependence may contribute to sex differences in SI and CPD.

Keywords: HPA-axis; pleiotropy; polygenic score (PGS); sequence kernel association testing (SKAT); smoking behavior.

Publication types

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

MeSH terms

  • Adult
  • Comorbidity
  • Depression / genetics*
  • Depressive Disorder / genetics
  • Female
  • Genetic Pleiotropy / genetics
  • Humans
  • Male
  • Multifactorial Inheritance / genetics
  • Nerve Tissue Proteins / genetics
  • Nicotine / metabolism
  • Receptors, Mineralocorticoid / genetics
  • Receptors, Nicotinic / genetics
  • Sex Factors
  • Smoking / genetics*
  • Tacrolimus Binding Proteins / genetics
  • Tobacco Use Disorder / genetics*
  • Tobacco Use Disorder / psychology

Substances

  • CHRNA5 protein, human
  • NR3C2 protein, human
  • Nerve Tissue Proteins
  • Receptors, Mineralocorticoid
  • Receptors, Nicotinic
  • Nicotine
  • Tacrolimus Binding Proteins
  • tacrolimus binding protein 5