Department of Pharmacotherapy & Outcomes Science, Virginia Commonwealth University School of Pharmacy, 410 N 12th Street, Richmond, VA 23298, USA.
Department of Pharmacy Practice, King Faisal University College of Clinical Pharmacy, P.O. Box 400, Hofuf, Eastern Province, 31982, Saudi Arabia.
Per Med. 2022 Jul;19(4):327-339. doi: 10.2217/pme-2021-0175. Epub 2022 Jun 24.
Prevalence of clinically actionable genetic variants of is lacking in specific population subgroups. This study aims to assess the frequencies of , , and in Asian, Native Hawaiian and Pacific Islander (NHPI) population subgroups compared with Europeans. The study included repository DNA samples of 1064 women, 18 years or older, who self-reported as Filipino, Korean, Japanese, Native Hawaiian, Marshallese and Samoan. The overall frequencies of (25-36%) and (2.5-10%) were significantly higher in all our subgroups than in Europeans (15 and 0.02%, respectively). The overall frequency of was significantly lower in all our subgroups (1-6%) than in Europeans (21.7%). This is the first report on the frequencies of , , and in women of Asian and NHPI descent with distinct population subgroup differences. Differential allele frequencies of among population subgroups underscore the importance of increasing racial and ethnic diversity in pharmacogenetic research.
在特定人群亚组中，缺乏针对临床可操作的基因突变的流行情况。本研究旨在评估亚洲、夏威夷原住民和太平洋岛民（NHPI）人群亚组与欧洲人相比， 、 和 的频率。该研究包括了 1064 名年龄在 18 岁及以上的自报为菲律宾人、韩国人、日本人、夏威夷原住民、马绍尔群岛人和萨摩亚人的女性的存储库 DNA 样本。我们所有亚组中 （25-36%）和 （2.5-10%）的总体频率明显高于欧洲人（分别为 15%和 0.02%）。我们所有亚组中 （1-6%）的 总体频率明显低于欧洲人（21.7%）。这是第一个关于亚洲和 NHPI 血统女性中 、 和 频率的报告，不同人群亚组存在差异。 等位基因频率在人群亚组中的差异突显了在药物遗传学研究中增加种族和民族多样性的重要性。
