RGD Reference Report - Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. - Rat Genome Database

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Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

Authors: Skinningsrud, B  Husebye, ES  Gervin, K  Lovas, K  Blomhoff, A  Wolff, AB  Kemp, EH  Egeland, T  Undlien, DE 
Citation: Skinningsrud B, etal., Eur J Hum Genet. 2008 Aug;16(8):977-82. Epub 2008 Feb 27.
RGD ID: 6484549
Pubmed: PMID:18301444   (View Abstract at PubMed)
DOI: DOI:10.1038/ejhg.2008.33   (Journal Full-text)

The tyrosine-protein phosphatase non-receptor type 22 (PTPN22) gene was recently identified as an important genetic susceptibility factor in several autoimmune diseases. The increased risk has been broadly explained by the 1858T-allele (rs2476601). As two smaller studies on Addison's disease (AD) have shown diverging results, we aimed to elucidate the predisposing effect of the single-nucleotide polymorphism (SNP) 1858CT in a larger population of AD patients, especially focusing on the AD patients with known autoimmune etiology. We also screened for unknown rare or common variants in the PTPN22 gene that could predispose for AD. The case-control study of Norwegian AD patients (n=332) and controls (n=990) showed a significant association between autoimmune AD (n=302) and the PTPN22 1858T risk allele (P=0.016). The association of AD with 1858T was supported by a meta-analysis combining our genotype data with that of others published previously (P=0.003). The mutation screening of PTPN22 in AD patients (n=332) and controls (n=112) revealed eight missense variants, five of which have not been reported previously. In conclusion, the 1858T-allele is a PTPN22 genetic susceptibility factor for autoimmune AD. Other rare variants in PTPN22 do occur, and may also be involved in the pathogenesis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Addison's disease  IAGP 6484549DNA: snp: cds: rs2476601RGD 
Addison's disease  ISOPTPN22 (Homo sapiens)6484549; 6484549DNA: snp: cds: rs2476601RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Adrenocorticotropic hormone excess  IAGP 6484549DNA:SNP:CDS:rs2476601 (1858C>T)RGD 
Decreased circulating cortisol level  IAGP 6484549DNA:SNP:CDS:rs2476601 (1858C>T)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