CTLA-4 +49 A/G, -318 C/T, -1661 A/G, CT60 A/G Gene Polymorphisms in Patients with Pemphigus in Turkey

Abstract

Objective: Pemphigus, expressing a life-threatening blistering disease, result from autoantibodies against the proteins that mediate intercellular adhesion in desmosomes, namely desmoglein 1 and/or 3. The importance of cytotoxic T lymphocyte-associated antigen (CTLA)-4 in negative regulation of T lymphocytes, which take part in this autoimmune reaction, is well known. Gene polymorphisms regarding this molecule affect autoimmunity. We aimed to determine whether CTLA-4 +49 A/G, -318 C/T, -1661 A/G and CT60 A/G gene polymorphisms cause susceptibility to pemphigus in Turkish population. Methods: We detected genotypes of the single nucleotide polymorphisms for 118 pemphigus patients and 108 healthy individuals with the help of polymerase chain reaction-restriction fragment length polymorphism method. Results: Distribution of the CTLA-4 +49 A/G, -318 C/T, -1661 A/G and CT60 A/G allele and genotype frequencies did not differ between pemphigus patients and healthy controls (p=0.643, OR=0.931; p=0.847, OR=1.160; p=0.968, OR=0.975; p=0.173, OR=1.303, respectively). Conclusion: We concluded that these polymorphisms are not associated with pemphigus susceptibility in Turkish population. This is the first study investigating the possible role of the 4 CTLA single nucleotide polymorphism in pemphigus susceptibility simultaneously. The role of CTLA-4 -1661 A/G gene polymorphism in pemphigus was not studied previously. © 2017 by the Turkish Society of Dermatology