沙特西部人群中华法林相关基因VKORC1和CYP2C9的等位基因变异

IF 0.4 Q4 PHARMACOLOGY & PHARMACY Journal of Pharmacology & Pharmacotherapeutics Pub Date : 2023-08-16 DOI:10.1177/0976500x231189351
A. Bagher, Wedyan S. Alharbi, Lamees S. Gadi, Lenah S. Binmahfouz, Rawan H Hareeri
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引用次数: 1

摘要

研究健康沙特人中华法林相关基因VKORC1(-1639G>A)、CYP2C9*2和CYP2C9*3的等位基因和基因型频率。这项横断面研究涉及125名年龄在18-60岁之间的无关健康沙特人,他们访问了沙特阿拉伯西部吉达的阿卜杜勒阿齐兹国王大学医院(KAUH)。Oragene™ DNA唾液采集试剂盒用于从唾液样本中采集和提取DNA。聚合酶链式反应-限制性片段长度多态性分析用于检测突变等位基因。超过51.4%的沙特参与者携带一个或多个突变等位基因。VKORC1(-1639G>A)等位基因在沙特的频率相对较高,为54.8%。CYP2C9*2和CYP2C9*3等位基因的CYP2C9等位基因频率分别为19.6%和54%,明显高于其他人群。观察到的VKORC1(-1639G>A)、CYP2C9*2和CYP2C9*3多态性的高频率表明,在开始华法林治疗之前,应考虑进行基因检测,以预测华法林的最佳初始剂量,并将华法林相关副作用降至最低。
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Allelic Variants in the Warfarin-related Genes VKORC1 and CYP2C9 in a Western Saudi Population
To investigate the allele and genotype frequencies of the warfarin-related genes VKORC1 (-1639G>A), CYP2C9*2, and CYP2C9*3 among healthy Saudis. This cross-sectional study involved 125 unrelated healthy Saudis ages 18–60 years visiting the King Abdulaziz University Hospital (KAUH) in Jeddah, Western Saudi Arabia. The Oragene™ DNA saliva collection kits were used to collect and extract DNA from saliva samples. A polymerase chain reaction-restriction fragment length polymorphism analysis was used to detect the mutant alleles. Over 51.4% of the Saudi participants carried one or more mutant alleles. The frequency of the VKORC1 (-1639G>A) allele in Saudi was relatively high at 54.8%. The frequencies of the CYP2C9 allele were 19.6% and 54% for the CYP2C9*2 and CYP2C9*3 alleles, respectively, which are substantially more abundant than in other populations. The observed high frequencies of VKORC1 (-1639G>A) and CYP2C9*2 and CYP2C9*3 polymorphisms suggest that genetic testing should be considered before initiating warfarin therapy to predict the optimal initial dose of warfarin and minimize warfarin-related side effects.
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