Differences between Spaniards and Ecuadorians in CYP2A6 allele frequencies: comparison with other populations

• Published in: Fundamental & clinical pharmacology 2011-10, Vol.25 (5), p.627-632
• Main Authors: Soriano, Antonia, Vicente, Jorge, Carcas, Cristina, Gonzalez-Andrade, Fabricio, Arenaz, Izaskún, Martinez-Jarreta, Begoña, Fanlo, Ana, Mayayo, Esteban, Sinués, Blanca
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; African Continental Ancestry Group - genetics; Alleles; Aryl Hydrocarbon Hydroxylases - genetics; Aryl Hydrocarbon Hydroxylases - metabolism; Asian Continental Ancestry Group - genetics; Biological and medical sciences; CYP2A6 polymorphism; Cytochrome P-450 CYP2A6; DNA; Ecuador - ethnology; Ecuadorians; ethnic differences; Ethnic Groups - genetics; European Continental Ancestry Group - genetics; Female; Gene Frequency; Genotype; Humans; Male; Medical sciences; Middle Aged; Nicotine; pharmacogenetic markers; Pharmacology. Drug treatments; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide - physiology; Smoking - pathology; Spain - ethnology; Spaniards; Tobacco, Smokeless - toxicity; Young Adult
• ISSN: 0767-3981; 1472-8206
• DOI: 10.1111/j.1472-8206.2010.00889.x

This study was designed to investigate the potential differences between Spaniards and Ecuadorian Mestizo people regarding CYP2A6*1A, CYP2A6*1B1, CYP2A6*1x2A, CYP2A6*9A, and CYP2A6*4A variant alleles at the CYP2A6 gene and also to compare the observed frequencies with those previously reported in different ethnic groups. DNA from 234 Spaniard and 300 Ecuadorian subjects were analyzed by either PCR or PCR‐restriction fragment length polymorphism. Differences between Spaniards and Mestizo Ecuadorians were detected in relation to the frequencies of the alleles linked to either absent enzyme activity, CYP2A6*4A (4 and 7.1%, respectively), or reduced CYP2A6 enzyme activity, CYP2A6*9A (6.4 and 10.3%, respectively). CYP2A6*4A and CYP2A6*9A frequencies in Ecuadorians were higher than those in Africans or Caucasian groups and lower than those in Asians. This study provides, for the first time, the result of the analysis of CYP2A6 allele frequency in a South American population and demonstrates the presence of ethnic differences in CYP2A6 genetic variants between Spaniards and Mestizo Ecuadorians, which should be considered in allele–disease association studies and, in particular, in those involving CYP2A6 genetic polymorphisms and tobacco‐related cancer.