Genetic Architecture of Primary Open-Angle Glaucoma in the Igbo Ethnic Group of South East Nigeria: A Genome-Wide Association Study

Primary open-angle glaucoma (POAG) exhibits significant heritable risk, with genome-wide association studies (GWAS) in European and Asian populations identifying numerous susceptibility loci. However, African populations, including Nigeria's Igbo ethnic group, remain severely underrepresented in global glaucoma genetics research. This study conducts the first GWAS of POAG in the Igbo ethnic group of South East Nigeria, aiming to identify population-specific susceptibility loci and evaluate the transferability of previously identified variants. A case-control design will recruit 600 clinically confirmed POAG cases and 600 ethnicity-matched controls from Enugu, Anambra, and Imo States. Genome-wide genotyping will be performed using the H3Africa Array, designed for African genetic diversity. Standard GWAS quality control, imputation using the TOPMed reference panel, and logistic regression analysis will be conducted. Polygenic risk score analysis will assess the cumulative effect of known POAG loci. The study expects to identify novel Igbo-specific susceptibility variants and demonstrate partial transferability of known loci. Findings will contribute to global glaucoma genetics knowledge and provide a foundation for precision medicine approaches to glaucoma risk stratification in the South East zone. The open-access summary statistics will serve as a reference dataset for African GWAS consortia. Keywords: genome-wide association study, primary open-angle glaucoma, Igbo ethnic group, genetics, precision medicine