Text Size: a  |   a 

Multiple Sclerosis, Systemic Linked by Genetic Variant

August 15, 2017

Maristella Steri, PhD, and her colleagues from Istituto di Ricerca Genetica e Biomedica in Italy, conducted a genome-wide association study in multiple sclerosis (MS) and TNFSF13B locus-specific association testing in systemic lupus erythematosus (SLE). The researchers found that there is a genetic variant associated with both MS and SLE. The study was published in the New England Journal of Medicine.

The team performed extensive phenotyping of quantitative immune variables, sequence-based fine mapping, cross-population and cross-phenotype analyses, and gene expression studies. This was performed to identify the casual variant and determine its mechanism of action. Researchers found that a variant in TNFSF13B, encoding the cytokine and drug target B-cell activating factor (BAFF) was associated with both MS and SLE. There was also an association between the disease-risk allele and up-regulated humoral immunity through increased levels of soluble BAFF, B lymphocytes, and immunoglobulins. "Overall, the evolutionary scenario we propose is that BAFF-var was selected as an adaptive response to malaria infection, resulting in an increased present-day risk of autoimmunity," conclude the authors.

Via Neurology Advisor