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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 720-722 |
| Number of pages | 3 |
| Journal | Genes and Immunity |
| Volume | 6 |
| Issue number | 8 |
| DOIs | |
| State | Published - Dec 2005 |
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Keywords
- Juvenile idiopathic arthritis
- PTPN 22
- Rheumatoid arthritis
ASJC Scopus subject areas
- Genetics(clinical)
- Immunology
- Genetics
Cite this
Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. / Seldin, Michael F; Shigeta, R.; Laiho, K.; Li, H.; Saila, H.; Savolainen, A.; Leirisalo-Repo, M.; Aho, K.; Tuomilehto-Wolf, E.; Kaarela, K.; Kauppi, M.; Alexander, H. C.; Begovich, A. B.; Tuomilehto, J.
In: Genes and Immunity, Vol. 6, No. 8, 12.2005, p. 720-722.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis
AU - Seldin, Michael F
AU - Shigeta, R.
AU - Laiho, K.
AU - Li, H.
AU - Saila, H.
AU - Savolainen, A.
AU - Leirisalo-Repo, M.
AU - Aho, K.
AU - Tuomilehto-Wolf, E.
AU - Kaarela, K.
AU - Kauppi, M.
AU - Alexander, H. C.
AU - Begovich, A. B.
AU - Tuomilehto, J.
PY - 2005/12
Y1 - 2005/12
N2 - 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.
AB - 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.
KW - Juvenile idiopathic arthritis
KW - PTPN 22
KW - Rheumatoid arthritis
UR - http://www.scopus.com/inward/record.url?scp=28544444239&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=28544444239&partnerID=8YFLogxK
U2 - 10.1038/sj.gene.6364255
DO - 10.1038/sj.gene.6364255
M3 - Article
C2 - 16107870
AN - SCOPUS:28544444239
VL - 6
SP - 720
EP - 722
JO - Genes and Immunity
JF - Genes and Immunity
SN - 1466-4879
IS - 8
ER -