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Dergiler / Turkish Journal of Medical Sciences / 2014 / Cilt: 44 - Sayı: 4

Is there a genetic predisposition for Turkish patients with sarcoidosis in the 329-bp region containing the BTNL2 rs2076530 polymorphism?

Muhsin ÖZDEMİR
Faruk SAYDAM
Emel KURT
İrfan DEĞİRMENCİ
Sayfa
590–594
Yayın Tarihi
2014-05-18
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

The lack of any genetic variation except rs2076530 in the 329-bp region is another significant finding for Turkish patients.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Sarcoidosis is a complex, multifactorial immune disorder with unknown etiology.
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Temel Bulgular & Veri:A single nucleotide polymorphism ( G->A, rs2076530) in the butyrophilin-like 2 (BTNL2) gene results in a truncating protein formation.
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Sonuç & Katkı:The lack of any genetic variation except rs2076530 in the 329-bp region is another significant finding for Turkish patients.
🔬Tür:Modelleme & Sayısal Simülasyon
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Key words: BTNL2 gene · genetic predisposition · single nucleotide polymorphism

Özet

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.

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.

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Bu Makaleye Atıf Yap

ÖZDEMİR, M., SAYDAM, F., KURT, E., DEĞİRMENCİ, İ. (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, Cilt: 44 - Sayı: 4, 590–594. https://ajindex.com/articles/218258

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Kaynakça (13)

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