HTR1B, ADIPOR1, PPARGC1A, and CYP19A1 and obesity in a cohort of Caucasians and African Americans: an evaluation of gene-environment interactions and candidate genes

Am J Epidemiol. 2012 Jan 1;175(1):11-21. doi: 10.1093/aje/kwr272. Epub 2011 Nov 20.


The World Health Organization estimates that the number of obese and overweight adults has increased to 1.6 billion, with concomitant increases in comorbidity. While genetic factors for obesity have been extensively studied in Caucasians, fewer studies have investigated genetic determinants of body mass index (BMI; weight (kg)/height (m)(2)) in African Americans. A total of 38 genes and 1,086 single nucleotide polymorphisms (SNPs) in African Americans (n = 1,173) and 897 SNPs in Caucasians (n = 1,165) were examined in the Southern Community Cohort Study (2002-2009) for associations with BMI and gene × environment interactions. A statistically significant association with BMI survived correction for multiple testing at rs4140535 (β = -0.04, 95% confidence interval: -0.06, -0.02; P = 5.76 × 10(-5)) in African Americans but not in Caucasians. Gene-environment interactions were observed with cigarette smoking and a SNP in ADIPOR1 in African Americans, as well as between a different SNP in ADIPOR1 and physical activity in Caucasians. A SNP in PPARGC1A interacted with alcohol consumption in African Americans, and a different SNP in PPARGC1A was nominally associated in Caucasians. A SNP in CYP19A1 interacted with dietary energy intake in African Americans, and another SNP in CYP191A had an independent association with BMI in Caucasians.

Publication types

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

MeSH terms

  • Alcohol Drinking
  • Aromatase / genetics*
  • Black or African American / genetics
  • Body Mass Index
  • Energy Intake
  • Female
  • Gene-Environment Interaction*
  • Genetic Association Studies
  • Heat-Shock Proteins / genetics*
  • Humans
  • Linear Models
  • Male
  • Middle Aged
  • Motor Activity
  • Obesity / ethnology
  • Obesity / genetics*
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Polymorphism, Single Nucleotide
  • Prospective Studies
  • Receptor, Serotonin, 5-HT1B / genetics*
  • Receptors, Adiponectin / genetics*
  • Risk Factors
  • Smoking
  • Transcription Factors / genetics*
  • White People / genetics


  • ADIPOR1 protein, human
  • HTR1B protein, human
  • Heat-Shock Proteins
  • PPARGC1A protein, human
  • Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha
  • Receptor, Serotonin, 5-HT1B
  • Receptors, Adiponectin
  • Transcription Factors
  • Aromatase
  • CYP19A1 protein, human