Despite Genetic and Proteomic Arguments, the Three Common Variants of NOD2/ CARD15 Genes: Pemphigus Foliaceus

Background: Knowledge about the pathogenesis of Pemphigus Foliaceus (PF), an autoimmune disorder of the skin natural barrier, is still modest. Genetic susceptibility factors have been widely studied, while environmental factors remain still ambiguous. NOD2/CARD15 gene encodes an intracytoplasmic receptor involved in recognition of microbial components and NF-κB inflammatory signaling pathway. Three common CD-associated variations (R702W, G908R and 1007fs) cause a "loss of function" of the molecule and lead to a chronic inflammation in the intestinal epithelial barrier. The aim of this study is to analyze NOD2/CARD15 gene polymorphisms in Tunisian endemic PF. Methods and Results:A case-control study including 79 PF patients and 160 controls was conducted using PCR-RFLP and direct sequencing. Our results showed that the three SNPs are not polymorphic in both patients and controls (allelic frequencies were 0.63% vs 1.25%, 0.63% vs 1.87% and 0% vs 0.62%, respectively). There was no association of mutant alleles with the disease. Conclusions: Our results suggest that the three common variants of NOD2/CARD15 gene are not involved in susceptibility to Tunisian PF. The alteration of the molecule's functionality caused by these mutations seems to not interfere with the development of the disease.