RGD Reference Report - Association between the PTPN22 +1858 C/T polymorphism and psoriatic arthritis. - Rat Genome Database

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Association between the PTPN22 +1858 C/T polymorphism and psoriatic arthritis.

Authors: Juneblad, K  Johansson, M  Rantapaa-Dahlqvist, S  Alenius, GM 
Citation: Juneblad K, etal., Arthritis Res Ther. 2011 Mar 16;13(2):R45.
RGD ID: 6484592
Pubmed: PMID:21410964   (View Abstract at PubMed)
PMCID: PMC3132030   (View Article at PubMed Central)
DOI: DOI:10.1186/ar3284   (Journal Full-text)

INTRODUCTION: The purpose of the present study was to investigate the frequency of the PTPN22 +1858 C/T single nucleotide polymorphism (SNP) (rs 2476601), previously shown to be associated with several autoimmune diseases, in patients with psoriatic arthritis (PsA) in comparison with population based controls. METHODS: A total of 291 patients (145 male/146 female, mean age (+/- S.D.) 52.2 (+/- 13.1) years) with PsA were examined clinically, by standard laboratory tests and their DNA was genotyped for the SNP rs2476601 (PTPN22 +1858 C/T). Allelic frequencies were determined and compared with 725 controls. RESULTS: Carriage of the risk allele, PTPN22+1858T, showed a significant association with patients with PsA compared with controls (chi2 = 6.56, P = 0.010, odds ratio (OR) 1.49; 95% confidence interval (CI) 1.10 to 2.02). A significantly higher proportion of carriers of the risk allele (T) had significantly more deformed joints (n +/- SEM) (5.9 +/- 1.2 vs 2.8 +/- 0.5; P = 0.005). CONCLUSIONS: In this study the +1858T allele of the PTPN22 gene, known to be associated with several autoimmune diseases, was associated with PsA. The finding of significantly more joints with deformities among carriers of the T variant could indicate a more aggressive phenotype of disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
psoriatic arthritis  IAGP 6484592DNA: snp: cds: rs2476601RGD 
psoriatic arthritis  ISOPTPN22 (Homo sapiens)6484592; 6484592DNA: snp: cds: rs2476601RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22)

Genes (Mus musculus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

Genes (Homo sapiens)
PTPN22  (protein tyrosine phosphatase non-receptor type 22)


Additional Information