The clinical usefulness of knowing CHRNA5 polymorphism genotype: paving the way for personalized therapy

Background: Tobacco smoking is a leading cause of global mortality, with cessation being the primary prevention strategy. Nicotine addiction has a genetic component; the rs503464 single nucleotide polymorphism (SNP) in the CHRNA5 gene is associated with smoking cessation therapy success. However, the impact of communicating genetic risk to patients remains unclear. This study evaluated whether knowledge of the rs503464 genotype influences smoking cessation rates. Methods: 270 smokers were enrolled and randomized into two groups: informed and uninformed of their rs503464 genotype. All participants received standard pharmacological-behavioral interventions. Cessation rates were assessed at 1, 3, 6, and 12 months. Multivariable logistic regression models analyzed the effect of knowing the rs503464 genotype and other variables on cessation success. Results: Among the 219 subjects who started prescribed smoking cessation medication, no significant differences in cessation rates were observed between participants informed or not informed of their rs503464 genotype at any follow-up point (P > 0.05). Male gender and higher baseline carbon monoxide levels were associated with lower success rates at three months. The medications used were equally effective. Conclusions: Communication of the rs503464 genotype did not influence smoking cessation success, proving that it does not disturb this process. This result opens the possibility of using genetic information to personalize anti-smoking treatment.