A landmark study has uncovered novel ancestry-specific genetic variants linked to multiple sclerosis (MS), offering new insights that could reshape treatment approaches for diverse populations affected by the disease. The research, presented today at ECTRIMS 2024, is the result of efforts by the Alliance for Research in Hispanic MS (ARHMS) Consortium and is the first large-scale study to identify ancestry-specific genetic effects for MS risk. In a comprehensive analysis of over 7,000 individuals from self-reported Hispanic (n=4,313; 2,201 MS, 2,112 controls) and African American (n=3,085; 1,584 MS, 1,501 controls) backgrounds, researchers discovered key genetic loci associated with MS risk.
The findings highlight the potential of ancestry-informed genetic studies to uncover previously unidentified risk factors for MS and to improve the precision of fine-mapping efforts across different racial and ethnic groups. A novel genetic locus was identified on chromosome 13q14.2, specifically within African haplotypes (genetic signatures).
The variant, rs3803245, is located in a region of the chromosome that is highly open to certain proteins in T-cells, suggesting this region may serve as a regulatory area in T-cells, which are crucial in the pathology of MS. On chromosome 1p35.2, the research identified two distinct genetic variants associated with MS risk – one specific to Native American haplotypes and the other to European haplotypes.
The Native American variant, rs145088108, si.