Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus.

摘要: Following the candidate gene approach we analyzed CD40L, CD40, BLYS and CD19 genes that participate of B-cell co-stimulation, for association with pemphigus foliaceus (PF), an organ-specific autoimmune disease, characterized by detachment epidermal cells from each other (acantholysis) presence autoantibodies specific desmoglein 1 (dsg1), cell-adhesion molecule. The disease is endemic in certain regions Brazil also known as fogo selvagem. Complex interactions among environmental genetic susceptibility factors contribute to manifestation this multifactorial disease. sample included 179 patients 317 controls. Strong significant was found CD40L−726T>C (odds ratio, OR=5.54 0.30 T+ C+ genotypes, respectively). In addition, there were negative associations CD40 −1T (OR=0.61) BLYS−871T (OR=0.62) due decrease frequency both homo- heterozygotes patient group. No variants gene. Gene–gene observed between BLYS, CD40L BLYS. So, dominant protective effects CD40L−726C only manifest BLYS−871T+ individuals, vice versa. We conclude variability important factor PF pathogenesis.