Finnish case–control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-08-18

AUTHORS

M F Seldin, R Shigeta, K Laiho, H Li, H Saila, A Savolainen, M Leirisalo-Repo, K Aho, E Tuomilehto-Wolf, K Kaarela, M Kauppi, H C Alexander, A B Begovich, J Tuomilehto

ABSTRACT

Several studies have identified the PTPN22 allelic variant 1858 C/T that encodes the R620W amino-acid change as a putative susceptibility factor in autoimmune diseases. The current study was undertaken to examine a large cohort of Finnish rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) subjects using both population control and, importantly, family-based association methods. The latter is particularly important when, as is the case for the 1858 C/T polymorphism, the frequency of the variant allele (T) differs in both major ancestral populations and in subpopulations. The analysis of rheumatoid factor-positive 1030 RA probands from Finland provides strong support for association of this variant in both population studies (allele specific odds ratio (OR)=1.47, 95% confidence interval (CI)=1.27–1.70, P=3 × 10−7) and in family studies (P<10−6). In contrast, no allelic association was seen with JIA (230 probands) and only weak evidence for a genotypic effect of 1858T homozygotes was observed in this population. More... »

PAGES

720-722

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.gene.6364255

DOI

http://dx.doi.org/10.1038/sj.gene.6364255

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004678573

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16107870


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47 allelic variant 1858 C/T
48 amino acid changes
49 analysis
50 ancestral populations
51 arthritis
52 arthritis subjects
53 association
54 association method
55 autoimmune diseases
56 cases
57 changes
58 cohort
59 contrast
60 control
61 current study
62 disease
63 effect
64 evidence
65 factors
66 family studies
67 family-based association methods
68 frequency
69 genotypic effects
70 homozygotes
71 idiopathic arthritis
72 idiopathic arthritis (JIA) subjects
73 juvenile idiopathic arthritis
74 large cohort
75 latter
76 major ancestral populations
77 method
78 polymorphism
79 population
80 population controls
81 population studies
82 probands
83 putative susceptibility factor
84 rheumatoid arthritis
85 risk factors
86 strong support
87 study
88 subjects
89 subpopulations
90 support
91 susceptibility factors
92 variant 1858 C/T
93 variant alleles
94 variants
95 weak evidence
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