Genetic variability and its implications in oxidative stress and inflammation in Colombian populations

Abstract

Introduction. Oxidative stress and inflammation are biological processes crucial in developing chronic inflammatory diseases.
Objective. This study aims to identify the genetic ancestry components and mitochondrial haplogroups of individuals from various regions of Colombia. We will also compare the relative frequencies of molecular variants in genes associated with the response to oxidative stress 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 were evaluated using informative molecular markers, and mitochondrial haplogroups were determined with specific markers. Additionally, we compared the frequencies of molecular variants in genes related to oxidative stress and inflammation.
Results. Two main genetic ancestry groups were identified: one group exhibited a predominantly African genetic ancestry and presented mitochondrial haplogroups L1, L2, L3, B2, and D1. The other group showed a predominantly European and East Asian genetic ancestry, with 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 (SOD3), rs4073 in interleukin 8 (IL-8), and rs1143627 and rs1143634 in interleukin 1 beta (IL-1β).
Conclusion. This study highlights significant differences in the allele frequencies of molecular variants in genes associated with oxidative stress and inflammation. These differences correspond to the primary genetic ancestry components of the individuals studied.