1. King Fahad Medical City, P.O. Box 59046, Riyadh 11525, Kingdom of Saudi Arabia.
Int J Med Sci. 2013 Aug 30;10(11):1497-502. doi: 10.7150/ijms.6795. eCollection 2013.
CYP2C19 is a cytochrome P450 enzyme, which is involved in the metabolism of some clinically important medications and is encoded by a highly polymorphic gene. There is no available data on the distribution of the CYP2C19 *4 and *17 mutant alleles in the Saudi Arabian population. The aim of the study was to determine different CYP2C19 mutant allele (*2, *4 and *17) frequencies in healthy Saudi subjects and to determine genotype frequencies for these mutations. The CYP2C19 genotypes were then classified into phenotypes.
In 201 adults of Saudi ethnicity, the allele frequencies were CYP2C19*1 (62.9%), *17 (25.7%), *2 (11.2%) and *4 (0.2%). The most prevalent genotype combinations were CYP2C19 *1/*1 (40.3%) and *1/*17 (30.4%). The distribution of CYP2C19 phenotypes was divided into extensive metabolizers (EM) 77.6%, intermediate metabolizers (IM) 14.9%, ultra-rapid metabolizers (UM) 7% and poor metabolizers (PM) 0.4%. This finding has important clinical implications for the use of CYP2C19 metabolized medications in the Saudi population and further studies are needed.
CYP2C19 是一种细胞色素 P450 酶，参与一些临床重要药物的代谢，由一个高度多态性的基因编码。目前还没有关于 CYP2C194 和17 突变等位基因在沙特阿拉伯人群中的分布数据。本研究的目的是确定健康沙特受试者中不同 CYP2C19 突变等位基因(*2、4 和17)的频率，并确定这些突变的基因型频率。然后将 CYP2C19 基因型分类为表型。
在 201 名沙特裔成年人中，等位基因频率为 CYP2C19*1(62.9%)、17(25.7%)、2(11.2%)和4(0.2%)。最常见的基因型组合是 CYP2C191/1(40.3%)和1/*17(30.4%)。CYP2C19 表型的分布分为广泛代谢者(EM)77.6%、中间代谢者(IM)14.9%、超快代谢者(UM)7%和差代谢者(PM)0.4%。这一发现对沙特人群中使用 CYP2C19 代谢药物具有重要的临床意义，需要进一步研究。
