All polymorphisms studied in this paper [PMID: 23148991] , total : 16 polymorphisms
| Title : Association analysis of single nucleotide polymorphisms of proinflammatory cytokine and their receptors genes with rheumatoid arthritis in northwest Chinese Han population. |
| Abstract : OBJECTIVE: To analyze the relationship of genetic polymorphisms in IL1beta, IL6, TNF-alpha genes and their receptors genes with rheumatoid arthritis (RA) for northwest Han Chinese. This study also explores whether there are gene-gene interactions among these genetic polymorphisms. METHODS: A total of 452 patients with RA and 373 matched healthy controls were enrolled to carry out a case-control study for 16 SNPs of IL1B-511 C>T, IL1B-31 T>C, IL1B+3954 C>T, IL1RN T>C, IL6-597 G>A, IL6-572 G>C, IL6-174 G>C, IL6R-183 G>A, IL6R exon2 T>A, IL6R exon1 A>C, TNFA-863 C>A, TNFA-857 C>T, TNFA-308 G>A, TNFA-238 G>A, TNFR1-383 A>C and TNFR2 T676G T>G from seven genes. Genotyping for the SNPs was conducted on the RotorGene 6000 PCR platform using in-house high resolution melting (HRM) approaches. Detection correctness was validated through direct sequencing. Generalized multifactor dimensionality reduction (GMDR) analysis was applied to discover likely gene-gene interaction model among the SNPs. RESULTS: The results showed that the genotype distributions of TNFA-308, TNFA-857 and TNFA-863 are significantly different between case and control groups (P=0.016, P=0.048 and P=0.016, respectively). Carriers of TNFA-857 mutant allele conferred risk to RA (OR=1.525, 95% CI=1.157-2.009) while those of TNFA-308 and TNFA-863 mutant alleles conferred protection to RA (OR=0.459, 95% CI=0.286-0.739; OR=0.490, 95% CI=0.329-0.732). GMDR analysis for the SNPs indicated that gene-gene interaction existed among IL1B-31, IL1RN, IL6-572, IL6R-183, IL6R-exon1 and TNFA-857. Thirteen of all genotypes of the six SNPs combination were discovered to have significant distribution difference between RA group and the control. CONCLUSIONS: This study demonstrated that PCR-HRM assay is a highly efficient SNP genotyping method especially for the detection of large-scale samples. The SNPs of TNFA-308 and TNFA-863 are closely associated with RA susceptibility and that gene-gene interactions may occur among the six SNPs of IL1B-31, IL1RN, IL6-572, IL6R-183, IL6R-exon1 and TNFA-857 in RA patients from northwest Chinese Han population, especially these SNPs' combination genotypes CT/TT/CC/GG/AC/CC, CT/TT/GC/AA/AC/CT and CT/CT/CC/GA/AC/CC to show high risk of RA susceptibility in our study. |
| Author : You CG,Li XJ,Li YM,Wang LP,Li FF,Guo XL,Gao LN, |
| Source : Cytokine. 2013 Jan;61(1):133-8. doi: 10.1016/j.cyto.2012.09.007. Epub 2012 Nov 11. |
16 records 1/1 page
| No. | Polymorphism name | Gene Symbol | Entrez Gene ID |
|---|---|---|---|
| 1 | rs16944 | IL1B | 3553 |
| 2 | rs1143627 | IL1B | 3553 |
| 3 | rs1143634 | IL1B | 3553 |
| 4 | rs4251961 | IL1RN | 3557 |
| 5 | rs1800796 | IL6 | 3569 |
| 6 | rs1800797 | IL6 | 3569 |
| 7 | rs1800795 | IL6 | 3569 |
| 8 | rs4845617 | IL6R | 3570 |
| 9 | rs2228145 | IL6R | 3570 |
| 10 | rs4845374 | IL6R | 3570 |
| 11 | rs361525 | TNF | 7124 |
| 12 | rs1800629 | TNF | 7124 |
| 13 | rs1799724 | TNF | 7124 |
| 14 | rs1800630 | TNF | 7124 |
| 15 | rs2234649 | TNFRSF1A | 7132 |
| 16 | rs1061622 | TNFRSF1B | 7133 |
16 records 1/1 page
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