Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.
Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.
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DOI：
10.1016/j.jaci.2013.10.040
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发表时间：
2014-01
影响因子：
14.2
通讯作者：
Meyers, Deborah A.
中科院分区：
文献类型：
--
作者：
Ortega, Victor E.;Meyers, Deborah A.
关键词：
药物遗传学正被用于开发针对不同种族或种族群体的个体的个性化疗法。迄今为止，药物遗传学研究主要在由欧洲血统的非西班牙裔白人组成的试验队列中进行。在旧石器时代晚期，人类第一次殖民欧洲，随后是非洲人、欧洲人和美洲土著人祖先的混合，这导致了遗传多样性的“瓶颈”或崩溃，导致了不同种族群体的遗传多样性程度不同。遗传祖先的差异可能会引入遗传变异，这可能会改变常用哮喘治疗的疗效，例如β2-肾上腺素能受体激动剂（β激动剂）。混合种族群体的药物遗传学研究仅限于小型候选基因关联研究，其中最好的例子是β激动剂治疗受体靶点ADRB 2的基因编码。基于大型联合体的测序研究正在使用下一代全基因组测序，以提供不同混合人群的多样化基因组图谱，可用于未来的药物遗传学研究。这些研究将包括候选基因研究、全基因组关联研究和基于全基因组混合的方法，这些方法解释了祖先遗传结构、复杂单倍型、基因-基因相互作用和罕见变异，以检测和复制新的药物遗传学位点。
Pharmacogenetics is being used to develop personalized therapies specific to individuals from different ethnic or racial groups. Pharmacogenetic studies to date have been primarily performed in trial cohorts consisting of non-Hispanic whites of European descent. A “bottleneck” or collapse of genetic diversity associated with the first human colonization of Europe during the Upper Paleolithic period, followed by the recent mixing of African, European, and Native American ancestries has resulted in different ethnic groups with varying degrees of genetic diversity. Differences in genetic ancestry may introduce genetic variation which has the potential to alter the therapeutic efficacy of commonly used asthma therapies, for example β2-adrenergic receptor agonists (beta agonists). Pharmacogenetic studies of admixed ethnic groups have been limited to small candidate gene association studies of which the best example is the gene coding for the receptor target of beta agonist therapy, ADRB2. Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations which can be used for future pharmacogenetic studies. These studies will include candidate gene studies, genome-wide association studies, and whole-genome admixture-based approaches which account for ancestral genetic structure, complex haplotypes, gene-gene interactions, and rare variants to detect and replicate novel pharmacogenetic loci.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
6.7
作者：
Drazen, JM;Silverman, EK;Lee, TH
通讯作者：
Lee, TH
影响因子：
--
作者：
Anderson, HR;Ayres, JG;Victor, CR
通讯作者：
Victor, CR
影响因子：
2.6
作者：
Choudhry, Shweta;Que, Loretta G.;Burchard, Esteban G.
通讯作者：
Burchard, Esteban G.
影响因子：
--
作者：
CASTLE, W;FULLER, R;PALMER, J
通讯作者：
PALMER, J