Association between the serotonin- transporter- linked polymorphic region (5-HTTLPR) and pemphigous disease in Iranian patients

Abstract

Introduction: Pemphigus vulgaris (PV) is a relatively rare autoimmune disease characterized by blistering of the skin and mucosa. The main objective of this study was to investigate the possible association between the 5-HTTLPR polymorphism and PV in Iranian patients. For this, 112 PV and 100 controls were enrolled in this study.Materials and Methods: In this case-control study, Genomic DNA was extracted from whole blood and genotyping of all participants for the 5-HTTLPR polymorphism was carried out using the polymerase chain reaction (PCR) technique. The genotypes were grouped into threeclasses: homozygous for the short allele (SS), heterozygous for the short and long allele (LS) and homozygous for the long allele (LL).Results: Our results showed no significant association between the 5-HTTLPR polymorphism genotypes, LL, SS and LS in PV patients compared to controls. Also, our finding did not reveal any evidence of an association between this disease and the allele frequency of S and L. Taken together, our findings suggested that the 5-HTTLPR polymorphism is unlikely to be a factor contributing to the risk of developing pemphigus vulgaris.Conclusion: It can be concluded that although 5-HTTLPR polymorphism seems to be associated with some of auto-immune and stress-related disease.Key words: Iranian Population, PCR, Pemphigus vulgaris, Polymorphism, Risk Factor.