Genetic variability of CYP2C19 in a Mexican population: contribution to the knowledge of the inheritance pattern of CYP2C19*17 to develop the ultrarapid metabolizer phenotype

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• 作者：ALMA FAVIOLA FAVELA-MENDOZA ; GABRIELA MARTINEZ-CORTES…
• 关键词：CYP2C19 ; Mexican population ; poor metabolizer ; ultrarapid metabolizer ; allele CYP2C19*17.
• 刊名：Journal of Genetics
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：94
• 期：1
• 页码：3-7
• 全文大小：131 KB
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• 作者单位：ALMA FAVIOLA FAVELA-MENDOZA (1)
  GABRIELA MARTINEZ-CORTES (1)
  MARCELO HERNANDEZ-ZARAGOZA (1)
  JOEL SALAZAR-FLORES (1)
  JOSE FRANCISCO MU?OZ-VALLE (2)
  VICTOR MANUEL MARTINEZ-SEVILLA (1)
  NOEMI YOLANDA VELAZQUEZ-SUAREZ (1)
  HECTOR RANGEL-VILLALOBOS (1)
  
  1. Instituto de Investigación en Genética Molecular, Centro Universitario de la Ciénega, Universidad de Guadalajara (CUCiénega-UdeG), Av. Universidad #1115, Col. Lindavista, Ocotlán, Jalisco, CP 47810, México
  2. Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara (CUCS-UdeG), Sierra Mojada # 880, Colonia Independencia, CP 44340, Guadalajara, Jalisco, Mexico
  
• 刊物主题：Life Sciences, general; Microbial Genetics and Genomics; Plant Genetics & Genomics; Animal Genetics and Genomics; Evolutionary Biology;
• 出版者：Springer India
• ISSN：0973-7731

文摘

CYP2C19 is a polymorphic enzyme that metabolizes a wide variety of therapeutic drugs that has been associated with altered enzymatic activity and adverse drug reactions. Differences in allele frequencies of the CYP2C19 gene have been detected in populations worldwide. Thus, we analysed the alleles CYP2C19*2, CYP2C19*3, CYP2C19*4 and CYP2C19*5 related to the poor metabolizer (PM) phenotype in a Mexican population sample (n = 238), as well as CYP2C19*17, unique allele related to ultrarapid metabolizer phenotype (UMs). Genotypes were determined using SNaPshot and TaqMan qPCR assays. In addition to the wild-type CYP2C19*1 allele (77.1%), we only found CYP2C19*17 (14.3%) and CYP2C19*2 (8.6%). Comparison with previous population reports demonstrated that these two SNPs are homogeneously distributed in Latin America (P>0.05). Based on comparison with a previous pharmacokinetic study that determined the frequency of CYP2C19 phenotypes in the same population (western Mexican), we obtained the following findings: (i) based on the difference between the frequency of genotypes CYP2C19*2/*2 (presumably PM) versus the observed prevalence of PM phenotypes (0.4 versus 6.3%; χ 2=9.58, P = 0.00196), we inferred the plausible presence of novel CYP2C19 alleles related to the PM phenotype; (ii) the prevalence of UMs was in disagreement with the dominant inheritance pattern suggested for CYP2C19*17 (23.1 versus 4%; P<0.00001); (iii) the apparent recessive inheritance pattern of CYP2C19*17, based on the agreement between homozygous CYP2C19*17/*17 (presumably UMs) and the observed prevalence of UMs (2.1 versus 4%; (χ 2=1.048; P = 0.306).