Esma KONUK, Nilgün SALLAKCI, Olcay YEĞIN

Türk Tüberküloz Hastalarında İnterferon Gamma IFN-g Promoter ve P2X7 Polimorfizimleri

Dünya nüfusunun 1/3’ ü tüberküloz TB basili ile infektedir, fakat tüberküloz hastalığı bu bireylerin sadece % 5-10’ unda gelişmektedir. IFN-γ, TB hastalığına dirençte en önemli sitokindir. TB hastalığına yatkınlıkta “Purinergic Receptor” P2X7 ve IFNγ genlerindeki tek nükleotid değişimlerinin etkili olduğunu gösteren birçok yayın vardır. Araştırmalarımıza göre Türk toplumunda bu polimorfizmlerin etkisi ile ilişkili hiç çalışma yoktur. Bu projede biz TB hastalığına dirençte interferon gamma geni -155A/G ve -183G/T polimorfizmlerinin ilişkisini bir olgu - kontrol araştırması ile incelemeyi planladık. Aynı zamanda P2X7 geninde genellikle görülen A1513C polimorfizminide çalışmamızda araştırdık. Sonuçta TB hastalığında ve kontrol gruplarında IFNγ -155A/G ve -183G/T polimorfizmleri ile ilgili herhangi bir bulguya rastlanmadı. Bu sonuçlar bize bu polimorfizmin Türk toplumunda nadir olarak rastlanabileceğini gösteriyor. Bununla birlikte P2X7 genindeki Glu496Ala değişimine sebep olan A1513C polimorfizmi her iki grupta da belirlenmesine rağmen TB hastalığına yatkınlık ve dirençte bu hastalıkların görülmesi arasında anlamlı bir ilişki yoktur. AC; p=0,145 OR=1,521 CC; p=0,851 OR=1,114 AA; p=0,171 OR=1,447 . Bu bulgular da gösteriyor ki TB hastalığına yatkınlık genleri popülasyonlara göre farklılık gösterebilir

Anahtar Kelimeler:

Tüberküloz, Interferon-Gamma, P2X7, Polymorfizim

Interferon Gamma IFN-γ Promoter and P2X7 Polymorphisms in Turkish Tuberculosis Patients

Almost one-third of the world population has been infected with the tuberculosis TB bacillus, but TB develops only in 5-10% of the infected people. IFN-γ interferon gamma is the most important cytokine that plays a role in resistance to TB. There are many studies demonstrating that a single nucleotide polymorphisms in the “Purinergic Receptor” P2X7 and promoter site of the IFN-γ genes may cause susceptibility to TB. To our knowledge, there is no study associated with the effects of these polymorphisms in the Turkish population. In this study, the relationship between -155A/G and -183G/T polymorphisms in the interferon gamma gene and susceptibility to TB disease were investigated in a case-control study. Also, the A1513C polymorphism that usually occurs in the P2X7 gene was examined in the same study. In conclusion, the -155A/G and -183G/T polymorphisms of the IFN-γ gene were not found in the TB patients and in the control groups. This outcome suggests us that these polymorphisms may barely appear in the Turkish population. However, although the P2X7 A1513C polymorphism that changes glutamine to alanine at codon 496 was detected in both groups, there was no significant relationship between the occurrence of this polymorphism and resistance/or susceptibility to TB AC; p=0.145 OR=1.521 CC; p=0.851 OR=1.114 AA; p=0.171 OR=1.447 .Our findings suggest that TB susceptibility genes may differ in different populations

Keywords:

Tuberculosis, Interferon-Gamma, P2X7, Polymorphism,

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