High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-06

AUTHORS

M Apellániz-Ruiz, L Inglada-Pérez, M E G Naranjo, L Sánchez, V Mancikova, M Currás-Freixes, A A de Cubas, I Comino-Méndez, S Triki, A Rebai, M Rasool, G Moya, M Grazina, G Opocher, A Cascón, P Taboada-Echalar, M Ingelman-Sundberg, A Carracedo, M Robledo, A Llerena, C Rodríguez-Antona

ABSTRACT

Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a CYP3A4 protein lacking functional activity is caused by CYP3A4*20 allele. Here we characterized the world distribution and origin of CYP3A4*20 mutation. CYP3A4*20 was determined in more than 4000 individuals representing different populations, and haplotype analysis was performed using CYP3A polymorphisms and microsatellite markers. CYP3A4*20 allele was present in 1.2% of the Spanish population (up to 3.8% in specific regions), and all CYP3A4*20 carriers had a common haplotype. This is compatible with a Spanish founder effect and classifies CYP3A4 as a polymorphic enzyme. This constitutes the first description of a CYP3A4 loss-of-function variant with high frequency in a population. CYP3A4*20 results together with the key role of CYP3A4 in drug metabolism support screening for rare CYP3A4 functional alleles among subjects with adverse drug events in certain populations. More... »

PAGES

288-292

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/tpj.2014.67

DOI

http://dx.doi.org/10.1038/tpj.2014.67

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029260017

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25348618


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