Eyes of Africa: The Genetics of Blindness: Study Design and Methodology
- Resource Type
- Authors
- CM Chuka-Okosa; Tony Realini; Onoja Akpa; Olusola Olawoye; Michael A. Hauser; Adeyinka O. Ashaye
- Source
- BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)
BMC Ophthalmology
- Subject
- 0301 basic medicine
Glaucoma
Locus (genetics)
Genome-wide association study
Blindness
Study Protocol
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Genetics
Humans
Medicine
Genetic Predisposition to Disease
Human heredity
Exome sequencing
Adaptor Proteins, Signal Transducing
business.industry
Case-control study
Methodology
General Medicine
RE1-994
medicine.disease
Ophthalmology
030104 developmental biology
Case-Control Studies
Africa
030221 ophthalmology & optometry
Mendelian inheritance
symbols
business
Glaucoma, Open-Angle
Genome-Wide Association Study
- Language
- English
- ISSN
- 1471-2415
Background 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. 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.