Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK
Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK
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DOI：
10.1136/ard.2006.060459
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发表时间：
2007-05-01
影响因子：
27.4
通讯作者：
Worthington, Jane
中科院分区：
文献类型：
--
作者：
Hinks, Anne;Eyre, Steve;Worthington, Jane
目的：研究英国类风湿性关节炎（RA）患者PTPN 22基因区域的单核苷酸多态性（SNP），寻找与R620 W变异无关的疾病关联证据方法：英国951例RA病例符合美国风湿协会（ARA）的要求使用Sequenom MassArray MassEXTEND技术对PTPN 22基因区的11个SNP进行基因分型。结果：除R620 W（rs 2476601）SNP外，还有3个SNP与RA相关。与R620 W相关的T等位基因出现的唯一单倍型与RA相关;其他单倍型在RA病例和对照组之间的频率没有显着差异。与美国RA患者的研究相反，没有发现与PTPN 22独立于充分表征的R620 W变体相关的证据，这表明在这些患者中，该变体单独解释了与PTPN 22基因的关联。
Objective: To investigate single-nucleotide polymorphisms ( SNPs) across the PTPN22 gene region in a UK cohort of patients with rheumatoid arthritis ( RA), to look for evidence of disease associations independent of the well-characterised R620W variant (rs2476601).Methods: 951 RA cases in the UK satisfying American Rheumatism Association (ARA) criteria and 448 population controls were genotyped for 11 SNPs across the PTPN22 gene region using the Sequenom MassArray MassEXTEND technology. Allele, genotype and estimated haplotype frequencies of cases and controls were compared.Results: In addition to the R620W ( rs2476601) SNP, three SNPs were associated with RA in this study. The sole haplotype on which the associated T allele of R620W occurred was associated with RA; no other haplotypes showed a significant difference in frequencies between RA cases and controls.Conclusion: In contrast with a study of American patients with RA no evidence of association with PTPN22 independent of the well-characterised R620W variant was found, suggesting that in these patients this variant alone explains the association with the PTPN22 gene.