Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population

Scordo, Maria Gabriella; Caputi, Achille P.; D'Arrigo, Concetta; Fava, Giuseppina; Spina, Edoardo

doi:10.1016/j.phrs.2004.01.004

Cited by 191 publications

(118 citation statements)

References 39 publications

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“…16---18 Our CYP2C19*2 frequency of 14.2% was lower than others, particularly in an Asian cohort in which the frequency of CYP2C19*2 reached 45%. 19 The CYP2C19*3 allele was not found in any patient in our cohort (data not shown), which has also been reported in Caucasian cohorts by Scordo et al 16 and Goldstein et al 18 …”

Section: Cyp2c19*2 Frequencysupporting

confidence: 87%

CYP2C19*2 and prognosis after an acute coronary syndrome: Insights from a Portuguese center

Teixeira

Monteiro

Marques

et al. 2012

Revista Portuguesa de Cardiologia

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Section: Cyp2c19*2 Frequencysupporting

confidence: 87%

CYP2C19*2 and prognosis after an acute coronary syndrome: Insights from a Portuguese center

Teixeira

Monteiro

Marques

et al. 2012

Revista Portuguesa de Cardiologia

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“…Allele and genotype distribution for different CYP2C9 , CYP2C19 , and CYP2D6 variants in 113 healthy controls did not differ substantially from previously reported frequencies in the Italian general population [21] .…”

Section: Genecontrasting

confidence: 55%

“…After a preliminary study describing the distribution of variant CYP2C9 alleles in small samples of an Italian (n = 157 subjects) and an Ethiopian (n = 150) population [20] , Scordo et al [21] investigated the genotype profile of a sample of the Italian population in order to compare the CYP2C9 , CYP2C19 , and CYP2D6 allele frequencies among Italians with previous findings in other Caucasian populations. Frequencies for the major CYP2C9 , CYP2C19 , and CYP2D6 mutated alleles and genotypes were investigated in 360 unrelated healthy Italian volunteers (210 males and 150 females, aged 19 -52 years).…”

Section: Cyp2c9 Cyp2c19 and Cyp2d6mentioning

confidence: 99%

“…The frequency of the allelic variant CYP2C19 * 2 observed in this population (0.111) was consistent with findings in other Caucasian populations [7] . Six individuals (1.7%) were homozygous for CYP2C19 * 2 , and could therefore be classified as PM, Table 2 Allele frequencies of CYP2C9 , CYP2C19 , and CYP2D6 in 360 healthy Italian volunteers [21] and in other populations [7] . [7] .…”

Section: Cyp2c9 Cyp2c19 and Cyp2d6mentioning

confidence: 99%

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Pharmacogenetics of drug-metabolizing enzymes in Italian populations

Serpe

Canaparo

Scordo

et al. 2014

Drug Metabolism and Personalized Therapy

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: Drug-metabolizing enzymes play a major role in the biotransformation and subsequent elimination of most drugs and xenobiotics from the body. Both phase I and phase II enzymes are highly polymorphic. Inter-individual differences in genes coding for drug-metabolizing enzymes are important for understanding variability in drug response and for individualization of drug prescription. The prevalence of genetic polymorphisms in drug metabolism varies widely with ethnicity, and marked differences in the distribution of allelic variants of genes encoding drug-metabolizing enzymes have been documented in populations of different racial origin. This review aimed to summarize the available studies on genetic polymorphisms associated with drug metabolism conducted in Italian populations and to compare the frequency of the various metabolizer phenotypes and most common variant alleles (and resulting genotypes) with corresponding values from other populations. Notably, published data are not extensive, and most studies were performed on relatively low numbers of individuals. In general, the frequency of polymorphisms in the cytochrome P450 ( CYP ) genes as well as in the investigated phase II enzymes in the Italian population was similar to values reported for other Caucasian populations. However, the prevalence of CYP2D6 gene duplication among Italians was found to be very high, confirming the higher frequency of CYP2D6 ultrarapid metabolizers in the Mediterranean area compared to Northern Europe. It is worth noting that a geographic gradient in the flavin-containing monooxygenase 3 polymorphism distribution was also seen, the Italian population showing higher similarity to other Mediterranean populations than to North Europeans.

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“…The frequencies of the CYP2C19 PM genotypes in the Chinese Kazakh (7.5%, Po0.05) and 15 As shown in Table 2, the frequencies of the prevalent defective allele of CYP2C19*2 in both the Chinese Kazakh (15.4%, Po0.01) and Uygur (16.1%, Po0.01) populations were significantly lower than that in the Chinese Han population (28.8%). It was reported that the allele frequency of CYP2C19*3 had been regarded as a unique Asian variant allele that accounted for the CYP2C19 PM phenotype in Oriental populations, which are a rare occurrence in the Caucasian populations.…”

Section: Resultsmentioning

confidence: 92%

Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations

Wang¹,

Zhu

Li³

et al. 2009

J Hum Genet

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CYP2C19 and CYP2E1 show great genetic differences between Orientals and Caucasians. The objective of this study was to investigate the genotype and allele distribution patterns of CYP2C19 and CYP2E1 polymorphisms among healthy participants in mainland Chinese Kazakh, Uygur and Han populations by the PCR-restriction fragment length polymorphism technique. The allele frequencies of CYP2C19*2, CYP2E1*5B and CYP2E1*6 were significantly lower in the Chinese Kazakh (15.4, 11.2 and 14.5%, respectively) (Po0.05) and Uygur (16.1, 12.1 and 18.8%) (Po0.05) populations than that in the Chinese Han population (28.8, 19.4 and 26.2%), but the frequencies of CYP2C19*3 were similar among the three populations (8.0, 9.4 and 7.2%). Frequencies of the three combined genotypes, one for predicted CYP2C19 poor metabolizers and two for predicted high levels of CYP2E1 transcription, were significantly lower in the Chinese Kazakh (7.5, 19.6 and 28.0%, respectively) (Po0.05, v 2 -test) and Uygur (8.1, 22.8 and 33.6%) (Po0.05) populations compared with the Chinese Han population (16.5, 35.9 and 44.7%). The present research shows that frequencies of the functional single-nucleotide polymorphisms in the CYP2C19 and CYP2E1 genes vary in the Chinese Kazakh, Uygur and Han populations, suggesting that disease susceptibilities or drug responses associated with enzyme activities of CYP2C19 and CYP2E1 may differ in the diverse ethnic populations in mainland China.

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Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population

Cited by 191 publications

References 39 publications

CYP2C19*2 and prognosis after an acute coronary syndrome: Insights from a Portuguese center

CYP2C19*2 and prognosis after an acute coronary syndrome: Insights from a Portuguese center

Pharmacogenetics of drug-metabolizing enzymes in Italian populations

Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations

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