Despite the fact that primary open-angle glaucoma (POAG) is more prevalent and has a higher degree of clinical severity among African populations compared with European or Asian populations, individuals of African ancestry remain understudied in genomic research for blindness.
Researchers of a recent genome-wide association study (GWAS) aimed to tip the balance by looking at the association between African ancestry and genetic risk factors for POAG. The study, which included 26,295 participants, found that the amyloid-β A4 precursor protein-binding family B member 2 (APBB2) locus was significantly associated with POAG among individuals of African but not European or Asian ancestry. If this single-nucleotide polymorphism is validated in more populations, it could have an impact on risk assessment and therapeutic strategies.
References
- “The Genetics of Glaucoma in People of African Descent (GGLAD) Consortium. Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry”, JAMA. (2019) 322(17):1682–1691. doi:https://doi.org/10.1001/jama.2019.16161
