Abstract
BackgroundThis report describes the design and methodology of the “Eyes of Africa: The Genetics of Blindness,” a collaborative study funded through the Human Heredity and Health in Africa (H3Africa) program of the National Institute of Health.Methods This is a case control study that is collecting a large well phenotyped data set among glaucoma patients and controls for a genome wide association study. (GWAS). Multiplex families segregating Mendelian forms of early-onset glaucoma will also be collected for exome sequencing.Discussion A total of 4500 cases/controls have been recruited into the study at the end of the 3rd funded year of the study. All these participants have been appropriately phenotyped and blood samples have been received from these participants. Recent GWAS of POAG in African individuals demonstrated genome-wide significant association with the APBB2 locus which is an association that is unique to individuals of African ancestry. This study will add to the existing knowledge and understanding of POAG in the African population.
Highlights
This report describes the design and methodology of the “Eyes of Africa: The Genetics of Blindness,” a collaborative study funded through the Human Heredity and Health in Africa (H3Africa) program of the National Institute of Health
There have been many large genome wide association study. (GWAS) studies of Primary Open Angle Glaucoma (POAG), and a recent multi-ethnic meta-analysis demonstrated association of 127 loci with genome-wide significance [19]. It remains unclear just how relevant these loci are to Africans and individuals of African ancestry around the world
The 3 GWAS analyses of POAG in African Americans published to date found modest association with many of the loci identified in Caucasians, yet failed to identify any replicated genome-wide significant results [20,21,22]
Summary
Glaucoma is a leading cause of irreversible blindness worldwide, and primary open angle glaucoma (POAG) is the most common subtype. POAG disproportionately affects people of African ancestry [1,2,3,4,5]. Is POAG more common in African ancestry populations, but it has an earlier onset [6,8] and a more rapid progression [2, 8]. Together, these factors result in a tremendous personal and societal burden of glaucomatous vision loss and blindness in Sub-Saharan Africa. Despite the magnitude of this disease burden, we know little about what distinguishes the underlying genetic susceptibilities of glaucoma
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