Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers

Autor: Renato Polimanti, Joel Gelernter, Kevin P. Jensen
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
ISSN: 2045-2322
DOI: 10.1038/s41598-017-01098-4
Popis: To identify novel phenotypic associations related to Cytochrome P450 Family 2 Subfamily A Member 6 (CYP2A6), we investigated the human phenome in a total of 11,271 individuals. Initially, we conducted a phenome-wide association study in 3,401 nicotine-exposed elderly subjects considering 358 phenotypic traits. We identified a significant association between CYP2A6 rs113288603 and hearing loss symptoms (p = 5.75 × 10−5). No association was observed in a sample of 3,245 nicotine-unexposed individuals from the same discovery cohort, consistent with the conclusion that the finding is related to CYP2A6 involvement in nicotine metabolism. Consistent results were obtained (p CYP2A6 expression in cerebellar hemispheres (p = 7.8 × 10−4). There is a well-known correlation between smoking and age-related hearing loss. Cigarette smoking is associated with structural changes in the brain and CYP2A6 mediates these changes. In this context, the regulatory role of rs113288603 in cerebellum appears to be consistent with the known involvement of this brain region in auditory function.
Databáze: OpenAIRE