Pathare Anil V, Al Zadjali Shoaib, Misquith Rhea, Alkindi Salam S, Panjwani Vinodh, Lapoumeroulie Claudine, Pravin Sahaya, Paldi Andras, Krishnamoorthy Rajagopal
Department of Hematology, Sultan Qaboos University Hospital, Oman.
Hum Biol. 2012 Feb;84(1):67-77. doi: 10.3378/027.084.0103.
This is the first study to evaluate the spectrum and prevalence of dose-predictive genetic polymorphisms of the CYP2C9, CYP4F2 and VKORC1 loci together, in a geographically defined, ethnically admixed healthy adult Omani population sharing common lifestyle/environmental factors. Since the present-day Omani population is the result of an admixture of Caucasian, African and Asian ancestries, we compared the pharmacogenetic profile of these three loci in this population. Interestingly, the Omani pharmacogenetic profile, in terms of allele and genotype distribution, has values that are intermediate between Caucasians and African Americans, the African admixture further substantiated by the presence of the CYP2C9*8 allele. However, limitations and usefulness of such comparisons warrant caution, as the data from pharmacogenetic literature do not always represent bona fide population categories. Furthermore, definition of study population based on microgeographical scale would be more appropriate in pharmacogenetic research rather than the flawed racial, ethnic, or social categorizations since pharmacogenetic variation is clinal, and genetic influences will be further altered by lifestyle and environmental factors.
这是第一项在地理区域明确、种族混合且共享共同生活方式/环境因素的健康成年阿曼人群体中，共同评估CYP2C9、CYP4F2和VKORC1基因座剂量预测性基因多态性的谱型和患病率的研究。由于当今的阿曼人群体是高加索、非洲和亚洲血统混合的结果，我们比较了该人群中这三个基因座的药物遗传学特征。有趣的是，就等位基因和基因型分布而言，阿曼人的药物遗传学特征值介于白种人和非裔美国人之间，CYP2C9*8等位基因的存在进一步证实了非洲血统的混合。然而，由于药物遗传学文献中的数据并不总是代表真正的人群类别，此类比较的局限性和实用性值得谨慎对待。此外，在药物遗传学研究中，基于微观地理尺度定义研究人群比有缺陷的种族、民族或社会分类更为合适，因为药物遗传学变异是渐变的，并且遗传影响会因生活方式和环境因素而进一步改变。
