Genome-wide association studies (GWAS) have been successful in identifying and confirming novel genetic variants that are associated with diverse HIV phenotypes. However, these studies have predominantly focused on European cohorts. HLA molecules have been consistently associated with HIV outcomes, some of which have been found to be population specific, underscoring the need for diversity in GWAS. Recently, there has been a concerted effort to address this gap that leads to health care (disease prevention, diagnosis, treatment) disparities with marginal improvement. As precision medicine becomes more utilized, non-European individuals will be more and more disadvantaged, as the genetic variants identified in genomic research based on European populations may not accurately reflect that of non-European individuals. Leveraging pre-existing, large, multiethnic cohorts, such as the UK Biobank, 23andMe, and the National Institute of Health's All of Us Research Program, can contribute in raising genomic research in non-European populations and ultimately lead to better health outcomes.

中文翻译：

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关注艾滋病毒宿主遗传学的差距：机遇与挑战。


全基因组关联研究 (GWAS) 已成功识别和确认与不同 HIV 表型相关的新型遗传变异。然而，这些研究主要集中在欧洲人群。 HLA 分子一直与 HIV 结果相关，其中一些分子被发现具有人群特异性，这强调了 GWAS 多样性的必要性。最近，人们齐心协力解决这一差距，导致医疗保健（疾病预防、诊断、治疗）方面的差距略有改善。随着精准医疗的使用越来越广泛，非欧洲个体将越来越处于不利地位，因为基于欧洲人群的基因组研究中发现的遗传变异可能无法准确反映非欧洲个体的遗传变异。利用现有的大型多种族群体，例如英国生物银行、23andMe 和美国国立卫生研究院的“我们所有人研究计划”，可以为提高非欧洲人群的基因组研究做出贡献，并最终带来更好的健康结果。