Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population
doi: 10.1038/ng.205
pmid: 18794858
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population
Rheumatoid arthritis is a chronic autoimmune inflammatory disease with a complex genetic etiology. Members of the signaling lymphocyte activation molecule (SLAM) family carry out pivotal functions in innate immunity and in conventional lymphocytes. We identified a linkage disequilibrium block associated with rheumatoid arthritis in the chromosome 1q region containing multiple SLAM family genes. In this block, the association peaked at two functional SNPs (rs3766379 and rs6682654) in CD244 in two independent rheumatoid arthritis cohorts from Japan (P = 3.23 x 10(-8) and P = 7.45 x 10(-8)). We also identified a Japanese cohort with systemic lupus erythematosus that had a similar genotype distribution as the rheumatoid arthritis cohorts. We demonstrated that the rheumatoid arthritis-susceptible alleles of rs3766379 and rs6682654 and their haplotype increased their expression in luciferase and allele-specific transcript quantification assays. CD244 is a genetic risk factor for rheumatoid arthritis and may have a role in the autoimmune process shared by rheumatoid arthritis and systemic lupus erythematosus.
- Tohoku University Japan
- RIKEN Japan
- University of Tokyo Japan
Adult, Aged, 80 and over, Adolescent, Genetic Linkage, Genome, Human, Chromosome Mapping, Electrophoretic Mobility Shift Assay, Arthritis, Rheumatoid, Cohort Studies, Jurkat Cells, Cell Transformation, Neoplastic, Haplotypes, Japan, Antigens, CD, Chromosomes, Human, Pair 1, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Aged
Adult, Aged, 80 and over, Adolescent, Genetic Linkage, Genome, Human, Chromosome Mapping, Electrophoretic Mobility Shift Assay, Arthritis, Rheumatoid, Cohort Studies, Jurkat Cells, Cell Transformation, Neoplastic, Haplotypes, Japan, Antigens, CD, Chromosomes, Human, Pair 1, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Aged
4 Research products, page 1 of 1
- 2017IsRelatedTo
- 2017IsRelatedTo
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).111 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 1%
