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NRAMP1 gene polymorphisms in patients with rheumatoid arthritis in Koreans
1Department of Clinical Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ysyang@smc.samsung.co.kr
Abstract:
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.
Insights
Genetic variations in the Natural Resistance-Associated Macrophage Protein 1 (NRAMP1) gene are linked to rheumatoid arthritis susceptibility in the Korean population. Specific NRAMP1 polymorphisms may increase the risk of developing rheumatoid arthritis.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Natural resistance-associated macrophage protein 1 (Nramp1) influences host susceptibility to intracellular pathogens.
- The human NRAMP1 gene is a candidate for autoimmune disease and infection susceptibility.
- Rheumatoid arthritis (RA) is a complex autoimmune disease with a potential genetic component.
Purpose of the Study:
- To investigate the association between NRAMP1 gene polymorphisms and rheumatoid arthritis susceptibility in Koreans.
- To identify specific NRAMP1 variants that may confer risk for RA.
Main Methods:
- Genotyping of nine NRAMP1 polymorphisms (including microsatellite, 3' UTR variation, silent substitutions, and amino acid substitutions) using PCR-RFLP.
- Comparison of allele and genotype frequencies between 74 Korean RA patients and 53 healthy Korean controls.
Main Results:
- Three NRAMP1 polymorphisms (823C/T, D543N, and 1729+55del4) showed a significant association with RA.
- Significant differences in genotype frequencies for these three polymorphisms were observed between RA patients and controls.
- Specific genotypes (A/A homozygote for D543N and TGTG deletion homozygote for 1729+55del4) were exclusively found in the RA patient group.
Conclusions:
- Genetic polymorphisms in the NRAMP1 gene are potentially associated with susceptibility to rheumatoid arthritis in the Korean population.
- The identified NRAMP1 variants may serve as genetic markers for RA risk.