title: Polymorphisms in NRAMP1 and MBL2 genes and their relations with tuberculosis in Turkish children.
abstract: 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cukurova University, Adana, Turkey. hsynavn@gmail.com
authors.forename: Hüseyin Avni
authors.initials: HA
authors.lastname: Solğun
authors.forename: Deniz
authors.initials: D
authors.lastname: Taştemir
authors.forename: Necmi
authors.initials: N
authors.lastname: Aksaray
authors.forename: Ilker
authors.initials: I
authors.lastname: Inan
authors.forename: Osman
authors.initials: O
authors.lastname: Demirhan
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D037601:Mannose-Binding Lectin / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014376:Tuberculosis / Q000235:genetics* / Q000276:immunology; D014421:Turkey; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D027682:Cation Transport Proteins; D037601:Mannose-Binding Lectin; D000099173:Natural Resistance-associated Macrophage Protein 1; C445619:MBL2 protein, human