Department of Pharmaceutics, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
Basic Clin Pharmacol Toxicol. 2013 Jan;112(1):50-4. doi: 10.1111/j.1742-7843.2012.00919.x. Epub 2012 Jul 27.
The main objective of this study was to evaluate CYP2C19 genetic polymorphism in a Saudi Arabian population by determining the frequencies of CYP2C19*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 CYP2C19 variants was carried out by direct sequencing after PCR amplification. The allelic frequency of heterozygous CYP2C192 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. CYP2C193, 4, 6 and 7) was detected in the study population. About 46% of the examined volunteers were found to carry CYP2C1917 genotype (37.5% heterozygous and 8.1% homozygous of the defective allele) with an overall CYP2C1917 allelic frequency of 26.9%. In addition, a novel CYP2C19 SNP (G356A) and another very rare SNP (C336T) 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 CYP2C1917, G356A and C336T in the Saudi Arabian population.
本研究的主要目的是通过确定 CYP2C192、3、4、6、7 和17 等位基因及其相关基因型的频率，来评估沙特阿拉伯人群中的 CYP2C19 遗传多态性。从代表不同地理区域的 192 名健康沙特阿拉伯人分离基因组 DNA，并通过 PCR 扩增后的直接测序对选定的 CYP2C19 变体进行基因分型。杂合 CYP2C192 的等位基因频率为 8.2%，仅发现一个个体携带该缺陷等位基因的纯合基因型。研究人群中未检测到其他研究的弱代谢者等位基因（即 CYP2C193、4、6 和7）。约 46%的被检查志愿者被发现携带 CYP2C1917 基因型（37.5%为杂合子，8.1%为缺陷等位基因的纯合子），总体 CYP2C1917 等位基因频率为 26.9%。此外，本研究还鉴定了一种新的 CYP2C19 SNP（G356A）和另一种非常罕见的 SNP（C336T），其频率约为 50%。需要进一步研究来评估 CYP2C1917、G356A 和 C336T 在沙特阿拉伯人群中的代谢和临床相关性。
