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药物遗传学等位基因变异频率：对 VA 的百万退伍军人计划（MVP）作为美国人群多样性代表的分析。

Pharmacogenetic allele variant frequencies: An analysis of the VA's Million Veteran Program (MVP) as a representation of the diversity in US population.

机构信息

Center for Data and Computational Sciences, VA Boston HealthCare System, Boston, MA, United States of America.

The office of Research and Development, US Department of Veterans Affairs, Washington, DC, United States of America.

出版信息

PLoS One. 2023 Feb 24;18(2):e0274339. doi: 10.1371/journal.pone.0274339. eCollection 2023.

DOI:10.1371/journal.pone.0274339
PMID:36827430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9956596/
Abstract

We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single nucleotide variant (SNV) alleles, human leukocyte antigens (HLA) 4-digit alleles and an important copy number variant (CNV), the full deletion/duplication of CYP2D6. We compiled distinct allele frequency tables for European, African American, Hispanic, and Asian ancestry individuals. In addition, we compiled allele frequencies based on local ancestry reconstruction in the African-American (2-way deconvolution) and Hispanic (3-way deconvolution) cohorts.

摘要

我们展示了在美国人群代表性样本中，与药物基因组学相关的变异等位基因在多个祖源中的频率。我们分析了 658582 名具有基因型数据的个体，并提取了与药物基因组学相关的单核苷酸变异 (SNV) 等位基因、人类白细胞抗原 (HLA) 4 位等位基因和一个重要的拷贝数变异 (CNV)，即 CYP2D6 的完全缺失/重复。我们为欧洲、非裔美国人、西班牙裔和亚洲裔个体编制了不同的等位基因频率表。此外，我们还根据非裔美国人（2 向去卷积）和西班牙裔（3 向去卷积）队列中的局部祖源重建，编制了等位基因频率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/ae41d8a58f8f/pone.0274339.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/cf357294d652/pone.0274339.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/3a0f99c17c3c/pone.0274339.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/1cbcc7cfaf14/pone.0274339.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/ae41d8a58f8f/pone.0274339.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/cf357294d652/pone.0274339.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/3a0f99c17c3c/pone.0274339.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/1cbcc7cfaf14/pone.0274339.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/346f/9956596/ae41d8a58f8f/pone.0274339.g004.jpg

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