Osman DEMİRHAN, Necmi AKSARAY, Hüseyin Avni SOLĞUN, İlker İNAN, Deniz TAŞDEMİR

Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children

Bu çalışmada Çukurova Üniversitesi Çocuk Sağlığı ve Hastalıkları servisinde yatarak veya polikliniğinde ayaktan takip altında olan veya yeni tanı alan, 0-18 yaş arası pediatrik tüberküloz tanısı almış hasta grubunun, kontrol grubuna oranla tüberküloza genetik yatkınlığının belirlenmesi amaçlanmıştır. 1996-2009 yılları arasında Çukurova Üniversitesi Çocuk Sağlığı ve Hastalıkları servisinde yatarak veya polikliniğinde ayaktan takip altında olan veya yeni tanı alan, 0-18 yaş arası pediatrik tüberküloz tanısı almış 50 olgu hasta grubu, altta yatan herhangi bir kronik hastalığı ve akut hastalık tablosu söz konusu olmayan, daha önceden tüberküloz temas öyküsü bulunmayan, sağlıklı 0-18 yaş arası bireylerden seçilen 50 olgu kontrol grubu olarak belirlendi. NRAMP1 ve MBL gen polimorfizmlerinin belirlenmesi için hasta ve kontrol grubundaki bireylerden 4’er cc periferik venöz kan örneği alınarak Çukurova Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı genetik laboratuvarına analiz için gönderildi. Elde edilen verilerle; Çukurova Üniversitesi, Tıp Fakültesi Biyoistatistik Anabilim Dalında istatistiksel analiz yapıldı. NRAMP1 genin sık görülen polimorfizmlerinden; D543N, 3'-UTR ve INT4 polimorfizmleri açısından hasta grubu ve kontrol grubu olgular arasında istatistiksel bir farklılık saptanmamıştır. MBL geninin sık görülen polimorfizmlerinden KODON 54 ve KODON 57 polimorfizmleri açısından hasta grubu ve kontrol grubu arasında istatistiksel bir farklılık saptanmamıştır. Bu değerler göz önünde bulundurulduğunda her iki grup arasında; NRAMP1 ve MBL gen polimorfizmleri açısından istatistiksel açıdan belirgin farklılık saptanmamıştır. Bu çalışmada hasta grubu ve kontrol grubu arasında NRAMP1 ve MBL gen polimorfizmleri açısından belirgin istatistiksel farklılık saptanmamıştır. Literatürdeki diğer benzer çalışmalardaki pozitif sonuçlar; bu çalışmalardaki olgu sayısı yüksekliği ya da sosyoekonomik, ırksal, çevresel ve coğrafi faktörlerin farklılığını düşündürmektedir. Bu açıdan özellikle olgu sayısının artırılması ve bu etkenlerin daha spesifiye edilebilmesi açısından çalışmanın devamına karar verilmiştir.

Çocukluk çağı tüberkülozunda genetik yatkınlık

In this study, we aimed to determine genetic susceptibility of children group who are under follow up at outpatient and inpatient clinics or newly diagnosed pediatric tuberculosis according to healthy control group. Patient group consists of 50 cases aged between 0-18 years who are under follow up at outpatient and inpatient clinics or newly diagnosed pediatric tuberculosis between 1996-2009 in Cukurova University, Faculty of Medicine, Department of Pediatrics and the control group consists of 50 healthy cases aged between 0-18 years who have neither chronic nor acute diseases and have no history of tuberculosis contact. Analysis of NRAMP1 (D543N, 3’-UTR and INT4 loci) and MBL (codon 54 and 57) gene polymorphisms carried out in Cukurova University, Faculty of Medicine, Department of Medical Biology and Genetics. In this study comprising in total 50 individuals we did not observe any significant association with microsatellite polymorphisms at the INT4, G543A and 3-UTR loci situated in the NRAMP1 gene (p> 0.005). There was no significant difference of MBL gen frequency polimorphisms of codon 54 and 57 polimorphisms between patient and control group statistically (p> 0.05). We reported that the INT4, G543A and 3-UTR loci microsatellite polymorphisms in the NRAMP1 gene were not associated with tuberculosis. No significant associations were also observed for codons 54 and 57 in the MBL2 gene. These results shed light on the role of NRAMP1 in susceptibility to tuberculosis disease and provide a plausible explanation for NRAMP1 and MBL genetic heterogeneity in tuberculosis susceptibility.

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