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.
BT - The American journal of tropical medicine and hygiene C1 - http://www.ncbi.nlm.nih.gov/pubmed/21460021?dopt=Abstract DA - 2011 Apr DO - 10.4269/ajtmh.2011.10-0515 IS - 4 J2 - Am. J. Trop. Med. Hyg. LA - eng N2 -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.
PY - 2011 SP - 627 EP - 9 T2 - The American journal of tropical medicine and hygiene TI - Interferon-gamma receptor-1 gene promoter polymorphisms and susceptibility to leprosy in children of a single family. UR - http://www.ajtmh.org/content/84/4/627.full.pdf+html VL - 84 SN - 1476-1645 ER -