ArticleAmerican journal of human genetics1995
Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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Who cites it
32 citing papers in PubMed, 172 citations in OpenAlex.
- SLC11A1 polymorphisms and host susceptibility to cutaneous leishmaniasis in Pakistan.Parasites & vectors · 2017Article
- Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample.Memorias do Instituto Oswaldo Cruz · 2016Article
- NRAMP1 Polymorphisms like Susceptibility Marker in Mexican Focus of Cutaneous Leishmaniasis.BioMed research international · 2016Article
- Examining the role of components of Slc11a1 (Nramp1) in the susceptibility of New Zealand sea lions (Phocarctos hookeri) to disease.PloS one · 2015Article
- Article
- The functional SLC11A1 gene polymorphisms are associated with sarcoidosis in Turkish population.Molecular biology reports · 2012Article
- No evidence for association between SLC11A1 and visceral leishmaniasis in India.BMC medical genetics · 2011Article
- Polymorphisms of the NRAMP1 gene: distribution and susceptibility to the development of pulmonary tuberculosis in the Greek population.Medical science monitor : international medical journal of experimental and clinical research · 2011Article
- SLC11A1 polymorphisms in inflammatory bowel disease and Mycobacterium avium subspecies paratuberculosis status.World journal of gastroenterology · 2010Article
- CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study.BMC medical genetics · 2010Article
- NRAMP1 (SLC11A1): a plausible candidate gene for systemic sclerosis (SSc) with interstitial lung involvement.Journal of clinical immunology · 2008Article
- NRAMP1 is not associated with asthma, atopy, and serum immunoglobulin E levels in the French Canadian population.Genes and immunity · 2005Article
- Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Variants of the natural resistance-associated macrophage protein 1 gene (NRAMP1) are associated with severe forms of pulmonary tuberculosis.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2005Article
- Association between IFNA genotype and the risk of sarcoidosis.Human genetics · 2004Article
- Article
- A major susceptibility locus on chromosome 22q12 plays a critical role in the control of kala-azar.American journal of human genetics · 2003Article
- Extent and distribution of linkage disequilibrium around the SLC11A1 locus.Genes and immunity · 2003Article
- Genetic control of visceral leishmaniasis in a Sudanese population: candidate gene testing indicates a linkage to the NRAMP1 region.Genes and immunity · 2003Article
- Susceptibility to mycobacterial infections: the importance of host genetics.Genes and immunity · 2003Review
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The most common mycobacterial disease in humans is tuberculosis, and there is evidence for genetic factors in susceptibility to tuberculosis. In the mouse, the Bcg gene controls macrophage priming for activation and is a major gene for susceptibility to infection with mycobacteria. A candidate gene for Bcg was identified by positional cloning and was designated "natural resistance-associated macrophage protein gene" (Nramp1), and the human homologue (NRAMP1) has recently been cloned. Here we report on (1) the physical mapping of NRAMP1 close to VIL in chromosome region 2q35 by PCR analysis of somatic cell hybrids and YAC cloning and (2) the identification of nine sequence variants in NRAMP1. Of the four variants in the coding region, there were two missense mutations and two silent substitutions. The missense mutations were a conservative alanine-to-valine substitution at codon 318 in exon 9 and an aspartic acid-to-asparagine substitution at codon 543 in the predicted cytoplasmic tail of the NRAMP1 protein. A microsatellite was located in the immediate 5' region of the gene, three variants were in introns, and one variant was located in the 3' UTR. The allele frequencies of each of the nine variants were determined in DNA samples of 60 Caucasians and 20 Asians. In addition, we have physically linked two highly polymorphic microsatellite markers, D2S104 and D2S173, to NRAMP1 on a 1.5-Mb YAC contig. These molecular markers will be useful to assess the role of NRAMP1 is susceptibility to tuberculosis and other macrophage-mediated diseases.
Indexed as
Identifiers
7717395PMC1801220W1522105508What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.