DNA sequencing validation by PCR-RFLP for evaluating butyrophilin-like 2 rs2076530 polymorphism in Iranian patients with sarcoidosis

Autor:	Javadi, Alireza, Zarei, Masoud, Pourabdollah, Mihan, Sadr, Makan, Kiani, Arda, Abedini, Atefeh, Shamaei, Masoud
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Original Article: Clinical Research Sarcoidosis RFLP Single Nucleotide Polymorphism BTNL2
Zdroj:	Sarcoidosis, Vasculitis, and Diffuse Lung Diseases
ISSN:	2532-179X 1124-0490
Popis:	Background: Sarcoidosis is a multifactorial immune disorder with an uncertain origin. A single nucleotide polymorphism (G→A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in the formation of truncating protein. This study aimed to genotype the predisposition of the BTNL2 rs2076530 polymorphism in Iranian patients with sarcoidosis using the RFLP technique. Materials and Methods: In this study, 80 patients with sarcoidosis and 80 healthy individuals were included. The rs2076530 polymorphism of the BTNL2 gene was genotyped using the PCR-RFLP method by AvrII restriction enzyme and confirmed by DNA sequencing (Capillary electrophoresis 3130, ABI). Results: There was a statistically significant difference between proportions of patients with AA (47,5%) and controls (27.5%) (OR=2.38, 95%CI:1.23-4.61, P=0.009). In addition, a significant difference was observed in the frequency of the A allele (62.5%) in sarcoidosis (OR=2.14, 95%CI:1.37-3.35, P=0.001). A Bonferroni correction with P
Databáze:	OpenAIRE
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