单核苷酸多态性
医学
类风湿性关节炎
基因
SNP公司
免疫学
等位基因
基因型
单倍型
生物
关节炎
基因多态性
先天免疫系统
遗传学
遗传关联
Toll样受体
作者
Kilding R,Mohammed Akil,Simon H. Till,Amos R,J Winfield,Mark M. Iles,Anthony G. Wilson
出处
期刊:Clinical and Experimental Rheumatology
日期:2003-05-01
卷期号:21 (3): 340-342
被引量:65
摘要
Background. Rheumatoid arthritis (RA) is a heterogeneous condition affecting 1-2% of the population. Genetics account for 30% of disease susceptibility, with one third arising from the Major Histocompatibilty Complex. The toll-like receptor 4 (TLR-4) gene which has been mapped to chromosome 9 (9q32-q33) is involved in innate immune recognition with subsequent proinflammatory cytokine release including TNF A single nucleotide polymorphism (+896A → G) resulting in the amino acid substitution (Asp299Gly) has been shown to interrupt TLR-4 mediated signalling. Objective. We sought to determine if this TLR-4 polymorphism influences susceptibility to rheumatoid arthritis. Methods. DNA was extracted from 879 healthy controls and 212 rheumatoid arthritis patients recruited from the north of England. Genotyping was performed using a 5, nuclease Taqman allelic discrimination assay. Allele frequencies were compared between the two groups. We also examined whether an association existed in non-carriers of the DRB1 shared epitope alleles. Results. The frequency of the rare allele was 5.9% in the controls and 7% in the patients. Comparison of rare allele carriage between controls and patients revealed no significant difference p = 0.13. This was also the case in shared epitope negative individuals p = 0.92. Conclusion. The TLR-4 +896 polymorphism does not appear to influence susceptibility to rheumatoid arthritis.
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