RGD Reference Report - Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. - Rat Genome Database

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Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis.

Authors: Serrano, A  Marquez, A  Mackie, SL  Carmona, FD  Solans, R  Miranda-Filloy, JA  Hernandez-Rodriguez, J  Cid, MC  Castaneda, S  Morado, IC  Narvaez, J  Blanco, R  Sopena, B  Garcia-Villanueva, MJ  Monfort, J  Ortego-Centeno, N  Unzurrunzaga, A  Mari-Alfonso, B  Sanchez-Martin, J  De Miguel, E  Magro, C  Raya, E  Braun, N  Latus, J  Molberg, O  Lie, BA  Moosig, F  Witte, T  Morgan, AW  Gonzalez-Gay, MA  Martin, J   
Citation: Serrano A, etal., Ann Rheum Dis. 2013 Nov 1;72(11):1882-6. doi: 10.1136/annrheumdis-2013-203641. Epub 2013 Aug 14.
RGD ID: 7829739
Pubmed: PMID:23946333   (View Abstract at PubMed)
PMCID: PMC4053592   (View Article at PubMed Central)
DOI: DOI:10.1136/annrheumdis-2013-203641   (Journal Full-text)

OBJECTIVE: To analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA). METHODS: Our study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany, Norway and the UK. Two functional PTPN22 polymorphisms (rs2476601/R620W and rs33996649/R263Q) and two variants of the CSK gene (rs1378942 and rs34933034) were genotyped using predesigned TaqMan assays. RESULTS: The analysis of the discovery cohort provided evidence of association of PTPN22 rs2476601/R620W with GCA (PFDR=1.06E-04, OR=1.62, CI 95% 1.29 to 2.04). The association did not appear to follow a specific GCA subphenotype. No statistically significant differences between allele frequencies for the other PTPN22 and CSK genetic variants were evident either in the case/control or in stratified case analysis. To confirm the detected PTPN22 association, three replication cohorts were genotyped, and a consistent association between the PTPN22 rs2476601/R620W variant and GCA was evident in the overall meta-analysis (PMH=2.00E-06, OR=1.51, CI 95% 1.28 to 1.79). CONCLUSIONS: Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
temporal arteritis  IAGP 7829739DNA:polymorphism: :p.R620W (rs2476601) (human)RGD 
temporal arteritis  ISOPTPN22 (Homo sapiens)7829739; 7829739DNA:polymorphism: :p.R620W (rs2476601) (human)RGD 

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