📖 ABSTRACT/OVERVIEW
Osteosarcoma disproportionately affects adolescents and young adults, and while somatic mutations driving tumourigenesis have been characterised in Western populations, genome-wide susceptibility data for African populations are virtually absent. This genome-wide association study (GWAS) investigates genetic loci associated with osteosarcoma susceptibility in Nigerian adolescents and young adults aged 10 to 30 years, addressing a profound gap in African cancer genomics. The study will recruit 300 histologically confirmed osteosarcoma cases and 600 ethnically matched controls from five tertiary oncology and orthopaedic centres spanning Lagos, Enugu, Kano, Ibadan, and Port Harcourt. Whole-blood DNA will be extracted and genotyped on the H3Africa genome-wide SNP array. Association analysis will employ logistic regression under additive genetic models, with correction for population stratification using principal components analysis. Replication of known GWAS loci from European and Asian studies will be assessed, and novel loci prioritised for fine-mapping using linkage disequilibrium analysis. Gene annotation and biological pathway enrichment will contextualise candidate loci within known osteosarcoma molecular pathways. The study hypothesises that Nigerian osteosarcoma cases share a subset of susceptibility loci with non-African populations but carry novel population-specific variants. This research constitutes Nigeria's first GWAS in musculoskeletal oncology and contributes an original genetic epidemiological dataset to the global H3Africa bone tumour genomics consortium. Keywords: osteosarcoma, GWAS, genetic susceptibility, H3Africa, musculoskeletal oncology.
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