The first designed PCR-RFLP technique for butyrophilin-like 2 rs2076530 polymorphism in sarcoidosis

Abstract

<b>Background:</b> Sarcoidosis is a multifactorial immune disorder with uncertain origin. A single nucleotide polymorphism (G→A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in formation of truncating protein. This study aimed to genotype predisposition of the BTNL2 rs2076530 polymorphism in Iranian patients with sarcoidosis. <b>Materials and Methods:</b> In this study, 80 patients with sarcoidosis and 80 healthy individuals were included. The rs2076530 polymorphism of BTNL2 gene was genotyped using the first designed PCR-RFLP method by AvrII restriction enzyme and confirmed by DNA sequencing (Capillary electrophoresis 3130, ABI). <b>Results:</b> A statistical significant was observed in proportion of patient9s AA (67.9%) in comparison to AA (40.7%) (OR=3.07,95%CI:1.40-6.7, P=0.004) in controls. Also, the significant difference was statistically found between A (62.5%) in subjects and A (43.8%) allele in controls (OR=2.14,95%CI:1.37-3.35, P=0.001). However, no statistical difference was seen between case and controls based on AA and AG proportion. <b>Conclusion:</b> Our data emphasized the association of BTNL2 rs2076530 A allele with sarcoidosis susceptibility in Iranian patients. The first designed PCR-RFLP method for rs2076530 A allele can be applicable in resource-limited countries.