Abstract
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.
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.
| Original language | English |
|---|---|
| Article number | 272 |
| Number of pages | 7 |
| Journal | BMC Ophthalmology |
| Volume | 21 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 09 Jul 2021 |
| Externally published | Yes |
Keywords
- Adaptor Proteins, Signal Transducing
- Africa/epidemiology
- Blindness/epidemiology
- Case-Control Studies
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Glaucoma, Open-Angle
- Humans
Access to Document
- Eyes of Africa: the genetics of blindness: study design and methodology
© 2021 The Authors. This is an open access article published under a Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium, provided the author and source are cited.
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Tools to support data-driven identification and management of glaucoma in Sub-Saharan Africa
Olawoye, O. O. (Author), Chan, V. F. (Supervisor), Congdon, N. (Supervisor) & Azuara-Blanco, A. (Supervisor), Dec 2023Student thesis: Doctoral Thesis › Doctor of Philosophy