CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms are associated with heavy smoking, lung cancer, and chronic obstructive pulmonary disease in a mexican population

Ann Hum Genet. 2018 Nov;82(6):415-424. doi: 10.1111/ahg.12264. Epub 2018 Jul 11.

Abstract

Background and purpose: Smoking is a major public health problem worldwide. Polymorphisms in CHRNA3, CHRNA5, and CHRNB4 receptors play a critical role in nicotine dependence, lung cancer (LC) risk, and chronic obstructive pulmonary disease (COPD). This study characterized the CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms in a Mexican population and its association with nicotine dependence, LC, and COPD.

Methods: The study included 312 healthy individuals, 74 LC cases and 117 COPD cases. Genotyping was performed using TaqMan probes, and the data were analyzed using logistic regression adjusted for covariates.

Results: The polymorphism CHRNA3 rs1051730 and CHRNA5 rs16969968 were in the Hardy-Weinberg equilibrium and the allelic frequency of the A allele was 0.15, for both polymorphisms. The smokers were stratified in heavy smokers and moderate/light smokers, and we found in A alleles an OR = 2.86 (P = 0.01) to CHRNA3 rs1051730 and OR = 3.12 (P = 0.03) to CHRNA5 rs16969968. In addition, the A alleles in CHRNA3 rs1051730 and CHRNA5 rs16969968 were associated with the risk for LC (OR = 1.66, P = 0.07 and OR = 1.57, P = 0.1, respectively) and for COPD (OR = 2.04, P = 0.01 and OR = 1.91, P = 0.02, respectively).

Conclusion: CHRNA3/5 polymorphisms are associated with nicotine dependence, LC, and COPD in Mexicans.

Keywords: CHRNA3; CHRNA5; Mexican population; chronic obstructive pulmonary disease; lung cancer; nicotine dependence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Cross-Sectional Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Lung Neoplasms / genetics*
  • Male
  • Mexico
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Receptors, Nicotinic / genetics*
  • Smoking / adverse effects*
  • Tobacco Use Disorder / genetics*
  • Young Adult

Substances

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