Turkish Journal of Medical Sciences
Abstract
Sarcoidosis is a complex, multifactorial immune disorder with unknown etiology. A single nucleotide polymorphism ( G->A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in a truncating protein formation. It has been previously reported that this variation may be a risk factor for sarcoidosis in certain ethnic groups. This study was conducted to determine whether there is any genetic predisposition for the BTNL2 rs2076530 polymorphism in the 329-bp region in Turkish patients with sarcoidosis. Materials and methods: DNA samples were obtained from volunteers including 53 Turkish patients with sarcoidosis and 52 healthy controls. Analysis of the 329-bp region was carried out by polymerase chain reaction and sequencing of genomic DNA. Results: We did not find any genetic variation except the rs2076530 polymorphism in the 329-bp region. The AA genotype was associated with an increased risk of sarcoidosis in a recessive model [P = 0.027, OR 2.56 (95% CI 1.02-6.49)], but it did not include a risk for sarcoidosis in a dominant model (P = 0.885). Conclusion: Our results emphasize the recessive characteristic of the rs2076530 polymorphism in Turkish patients with sarcoidosis. The lack of any genetic variation except rs2076530 in the 329-bp region is another significant finding for Turkish patients.
DOI
10.3906/sag-1306-16
Keywords
BTNL2 gene, genetic predisposition, single nucleotide polymorphism, sarcoidosis
First Page
590
Last Page
594
Recommended Citation
ÖZDEMİR, M, SAYDAM, F, KURT, E, DEĞİRMENCİ, İ, TUNCEL, T, ÇİLİNGİR, O, GÜNEŞ, H. V, & ARTAN, S (2014). Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?. Turkish Journal of Medical Sciences 44 (4): 590-594. https://doi.org/10.3906/sag-1306-16