Gene variants, oxidative stress and inflammation in Colombian populations

Introduction. Oxidative stress and inflammation are biological processes crucial in developing chronic inflammatory diseases. Objective. This study aimed to identify the ancestry components and mitochondrial haplogroups of individuals from various regions of Colombia. We also compared relative frequencies of gen variants potentially associated with oxidative stress response and inflammation. Materials and methods. A structural genomic analysis was conducted on five genomes and 58 exomes from individuals across different regions of Colombia. Genetic ancestry components and mitochondrial haplogroups were evaluated with specific molecular markers. Additionally, we compared the frequencies of gene variants related to oxidative stress and inflammation. Results. Two main ancestry groups were identified: one group exhibited a predominantly African ancestry, having mitochondrial haplogroups L1, L2, L3, B2, and D1; the other group showed predominantly European and East Asian ancestry, having mitochondrial haplogroups H2, U2, B2, A2, C, D1, and D4. Furthermore, non-Afro-Colombian individuals revealed a higher frequency of the variants rs2458236 in the dual oxidase 1 gene (DUOX1), rs2536512 in superoxide dismutase 3 gene (SOD3), rs4073 in interleukin 8 gene (IL-8), and rs1143627 and rs1143634 in interleukin 1 beta gene (IL-1β). Conclusion. This study highlights significant differences in the allele frequencies of gene variants associated with oxidative stress and inflammation. These differences correspond to the primary genetic ancestry components of the individuals studied.