Investigation of mutation in Exon 10 of COL17A1 in patients with Bulluos pemphigoid

Bullous pemphigoid (BP) is the most frequently occurring entity among autoimmune bullous skin diseases. Although the genetic determinants of BP have not been precisely elucidated, some studies have shown an association between a mutation in Exon 10 of COL17A1 gene (rs805708) and BP disease susceptibility. Yet, these findings had so far not been independently replicated, and no data on a possible association of these mutations and BP in Iranian population were available.

This study contained 20 BP patients and 20 healthy controls. Genomic DNA was isolated using DNG-plus. The mutation in Exon 10 of COL17A1 gene (rs805708) was evaluated by using tetra-primer ARMS PCR method. Several relevant information such as demographic data (age, gender, and so forth) or clinical characteristics were analyzed for a possible effect of these factors on susceptibility to BP in patients.

The results of the mutation in Exon 10 of COL17A1 gene (rs805708) showed no significant difference between patients and controls (p>0.05).

Comparison of mutant genotype in a mutation in Exon 10 of COL17A1 gene (rs805708) showed no significant difference. These results show that the genetic predisposition to develop BP can greatly varies among different ethnic groups.