RGD Reference Report - NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans. - Rat Genome Database

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NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans.

Authors: Yang, YS  Kim, SJ  Kim, JW  Koh, EM 
Citation: Yang YS, etal., J Korean Med Sci. 2000 Feb;15(1):83-7.
RGD ID: 5684971
Pubmed: PMID:10719815   (View Abstract at PubMed)
PMCID: PMC3054594   (View Article at PubMed Central)
DOI: DOI:10.3346/jkms.2000.15.1.83   (Journal Full-text)

Natural resistance-associated macrophage protein 1 (Nramp1) is a genetic locus associated with innate resistance or susceptibility of murine hosts to infection with intracellular pathogens such as Salmonella, Leishmania and Mycobacterium. The human homologue of the Nramp1 gene, designated NRAMP1, has been investigated as a candidate gene for genetic susceptibility to autoimmune diseases as well as infections. This study tries to determine whether NRAMP1 polymorphisms are associated with susceptibility to rheumatoid arthritis in Koreans. The nine NRAMP1 polymorphisms (1 microsatellite, 1 variation in 3' UTR, 5 silent substitution, 2 amino acid substitution) were typed by PCR-RFLP in 74 patients with rheumatoid arthritis (RA) and 53 healthy controls in Koreans. The distribution of allele and genotype frequencies were compared between patients and controls. Three NRAMP1 polymorphisms (823C/T, D543N and 1729+55del4) were significantly associated with RA. In addition, there were significant differences in the genotype frequencies for 823C/T, D543N and 1729+ 55del4 polymorphisms between RA patients and controls. Genotypes of A/A homozygote for D543N and TGTG deletion homozygote for 1729+55del4 were only detected in the patient group. These data indicate that genetic polymorphisms of NRAMP1 might be associated with the susceptibility to rheumatoid arthritis in Koreans.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rheumatoid arthritis  IAGP 5684971DNA:polymorphisms more ...RGD 
rheumatoid arthritis  ISOSLC11A1 (Homo sapiens)5684971; 5684971DNA:polymorphisms more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc11a1  (solute carrier family 11 member 1)

Genes (Mus musculus)
Slc11a1  (solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1)

Genes (Homo sapiens)
SLC11A1  (solute carrier family 11 member 1)


Additional Information