Minding the gap in HIV host genetics: opportunities and challenges

• Published in: Human genetics Vol. 139; no. 6-7; pp. 865 - 875
• Main Authors: Gingras, Shanelle N., Tang, David, Tuff, Jeffrey, McLaren, Paul J.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-06-2020; Springer; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Efavirenz; Gene Function; Genetic aspects; Genetic diversity; Genetic Markers; Genetic Predisposition to Disease; Genetics, Population; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Health aspects; Histocompatibility antigen HLA; HIV; HIV (Viruses); HIV - genetics; HIV - isolation & purification; HIV Infections - epidemiology; HIV Infections - genetics; HIV Infections - virology; Human Genetics; Human genetics of infectious diseases; Human immunodeficiency virus; Humans; Metabolic Diseases; Molecular Medicine; Phenotypes; Polymorphism, Single Nucleotide; Precision medicine; Review
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-020-02177-9

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.