title: Interferon-gamma receptor-1 gene promoter polymorphisms and susceptibility to leprosy in children of a single family.
abstract: The autosomal recessive disorder, because of a single mutation in interferon-γ receptor-1(IFNGR1) at position -56, was found to be associated with susceptibility to leprosy in children of the same family. The existence of such heterozygous carriers might explain the crucial role of IFNGR1 in the host defense against intracellular pathogens such as Mycobacterium leprae. The single nucleotide polymorphisms (SNPs) in major candidate genes, i.e., natural resistance-associated macrophage protein 1 (NRAMP1), vitamin D receptor (VDR), tumor necrosis factor-alpha (TNF-α), interleukin-10 (IL-10), interleukin-12-receptor 1 (IL-12R1), were not found to be associated with this disease.
authors: Pediatric Respiratory Diseases Research Centre, Tehran, Iran. mycopf@hotmail.com
authors: Ali A
authors: AA
authors: Velayati
authors: Parissa
authors: P
authors: Farnia
authors: Soheila
authors: S
authors: Khalizadeh
authors: Amir M
authors: AM
authors: Farahbod
authors: Maryam
authors: M
authors: Hasanzadh
authors: Maryam F
authors: MF
authors: Sheikolslam
mesh_terms: D002648:Child; D002991:Clofazimine / Q000627:therapeutic use; D005190:Family; D020022:Genetic Predisposition to Disease; D006801:Humans; D007917:Leprostatic Agents / Q000627:therapeutic use; D007918:Leprosy / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017471:Receptors, Interferon / Q000235:genetics*; D012293:Rifampin / Q000627:therapeutic use; D000096743:Interferon gamma Receptor
chemical_list: D002991:Clofazimine; D007917:Leprostatic Agents; D017471:Receptors, Interferon; D012293:Rifampin; D000096743:Interferon gamma Receptor