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CYP2C19 Genetic Polymorphism in Saudi Arabians
Author(s) -
AlJenoobi Fahad I.,
Alkharfy Khalid M.,
Alghamdi Amal M.,
Bagulb Khawla M.,
AlMohizea Abdullah M.,
AlMuhsen Saleh,
Halwani Rabih,
Parvez Mohammad Khalid,
AlDosari Mohammed S.
Publication year - 2013
Publication title -
basic and clinical pharmacology and toxicology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.805
H-Index - 90
eISSN - 1742-7843
pISSN - 1742-7835
DOI - 10.1111/j.1742-7843.2012.00919.x
Subject(s) - genotype , genotyping , allele , genetics , cyp2c19 , biology , allele frequency , population , snp , snp genotyping , genomic dna , single nucleotide polymorphism , minor allele frequency , polymorphism (computer science) , gene , medicine , environmental health
The main objective of this study was to evaluate CYP 2 C 19 genetic polymorphism in a Saudi Arabian population by determining the frequencies of CYP 2C19*2, *3, *4, *6, *7 and *17 alleles and their relevant genotypes. Genomic DNA was isolated from 192 healthy Saudi Arabians, representing different geographical regions, and genotyping of the selected CYP 2C19 variants was carried out by direct sequencing after PCR amplification. The allelic frequency of heterozygous CYP 2 C 19*2 was 8.2% with only one individual found to carry the homozygous genotype of this defective allele. None of the other investigated poor metabolizer alleles (i.e. CYP 2 C 19*3, *4, *6 and *7 ) was detected in the study population. About 46% of the examined volunteers were found to carry CYP 2 C 19*17 genotype (37.5% heterozygous and 8.1% homozygous of the defective allele) with an overall CYP 2C19*17 allelic frequency of 26.9%. In addition, a novel CYP 2 C 19 SNP ( G 356 A ) and another very rare SNP ( C 336T) have been identified in this study with a frequency of about 50% for each. Further studies are required to evaluate the metabolic and clinical relevance of CYP 2 C 19*17 , G 356 A and C 336T in the Saudi Arabian population.