The association of CD247 Gene rs858554 and rs704848 Polymorphisms with Immune Thrombocytopenia Disease

Year 2019, Volume: 9 Issue: 1, 23 - 27, 30.04.2019

İbrahim Kutlubay Elif Gülsüm Ümit Jülide Tozkır

https://doi.org/10.26650/experimed.2019.19007

Abstract

DOI:
10.26650/experimed.2019.19007

Objective: Immune Thrombocytopenia (ITP) is
a disease characterized by the development of thrombocytopenia as a result of
platelet destruction due to autoantibodies which is against to platelets. There
is the abnormal T cell response that stimulates the proliferation and
differentiation of autoreactive B cells. The first signal is transmitted with
the CD3 zeta chain (CD247) molecule to the T cell for activation. In this
study, the association of immune thrombocytopenia (ITP) disease with rs858554
and rs704848 polymorphisms of CD3 zeta chain (CD247) gene, have been
investigated.

Materials and Methods: The study was
performed with the blood samples taken from 108 donors in the ITP and healthy
control group. The patients with ITP who were followed in Trakya University
Medical Faculty Hematology Clinic were included to the study. The patients and
healthy controls were informed about the study and signed informed consent form
approved by the local ethics committee. The ITP group were including 35
females, 20 males (55 in total) and in the healthy control group there were 31
females, 22 males (53 in total). The allelic variants of rs858554 and rs704848
were determined with “TaqMan
Probe Real-Time PCR”,
the analyses were performed with using “AB Applied Biosystems (SerialNumber: 2720010807)” via VIC/FAM
dyes. The results were statistically evaluated with chi square test.

Results: According to the results of the
study, no significant difference was found in the rs858554 and rs704848
polymorphisms between the ITP group and the healthy control group. Gender
distribution and haplotypic situational analysis, and the clinical finding for
the ITP patients there were no association with allelic and genotypic variants
of polymorphisms.

Conclusion: According to the findings that
the rs858554 and rs704848 polymorphisms did not directly contribute to the
clinical course of ITP disease for the investigated population in this study.

This work was supported by Research Fund of
the Trakya University. Project Number:2017/05

Cite this article as: Kutlubay İ, Ümit EG,
Tozkır J. The association of CD247 gene rs858554 and rs704848 polymorphisms
with Immune Thrombocytopenia Disease. Experimed 2019; 9(1): 23-7.

Keywords

ITP, autoimmunity, immune system, platelet, CD247, polymorphism

CD247 Genine Ait rs858554 ve rs704848 Polimorfizmlerinin İmmün Trombositopeni Hastalığı ile İlişkisi

Abstract

DOI: 10.26650/experimed.2019.19007

Amaç: İmmün trombositopeni (İTP), edinsel
olarak trombositlere karşı gelişen otoantikorlar ve trombopoezde bozulmalar
nedeniyle trombositlerin yıkımı ya da yapım kusuru sonucu trombositopeni gelişimi
ile karakterize bir hastalıktır. Hastalığın patogenezi tam olarak
bilinmemektedir. İTP’de görülen
otoantikorlar genellikle IgG tipinde oluşmaktadır. Bu antikorların oluşumu için
spesifik T hücre klonlarının anormal etkinliği söz konusudur. Bu çalışmada T hücrenin
aktivasyonu için sinyal iletimi yapan CD3 zeta zinciri (CD247) molekülüne ait
rs858554 ve rs704848 polimorfizmleri ile immün trombositopeni (İTP) hastalığının
ilişkisi araştırılmıştır.

Gereç ve Yöntem: Çalışmada İTP’li grupta 35 kadın,
20 erkek verici olmak üzere 55, sağlıklı kontrol grubunda ise 31 kadın, 22
erkek olmak üzere toplam 53 kişi bulunmaktadır. Polimorfik varyantları
belirlemek için TaqMan Probe Real-Time PCR yöntemi kullanılmıştır.

Bulgular: İTP’li hastalar ve sağlıklı kontrol grubu arasında rs858554 ve rs704848
polimorfizmleri açısından anlamlı fark bulunmamıştır. Sonuçlar cinsiyet dağılımına
ve polimorfizmlerin haplotipik dizilimlerine göre değerlendirilmiştir. Gruplar
arasında fark bulunmamıştır. İTP’li hastalar için klinik verileriler açısından yapılan karşılaştırmalarda
anlamlı bir fark belirlenmemiştir.

Sonuç: Elde edilen bulgular ve hastaların klinik
seyrine dair Hematoloji kliniğinden alınan veriler doğrultusunda rs858554 ve
rs704848 polimorfizmlerinin ilgili popülasyon için İTP hastalığının patogenezi
ile doğrudan ilişkili olmadığı tespit edilmiştir.

Bu çalışma Trakya Üniversitesi Bilimsel Araştırma
Projeleri Koordinasyon Birimince Desteklenmiştir. Proje Numarası: 2017/05

Cite this article as: Kutlubay İ, Ümit EG,
Tozkır J. The association of CD247 gene rs858554 and rs704848 polymorphisms
with Immune Thrombocytopenia Disease. Experimed 2019; 9(1): 23-7.

Keywords

İTP, otoimmünite, immün sistem, trombosit, CD247, polimorfizm

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