Document Detail

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.
MedLine Citation:
PMID:  18301444     Owner:  NLM     Status:  MEDLINE    
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.
Beate Skinningsrud; Eystein S Husebye; Kristina Gervin; Kristian Løvås; Anne Blomhoff; Anette B Wolff; E Helen Kemp; Thore Egeland; Dag E Undlien
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-02-27
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  16     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-07-24     Completed Date:  2008-09-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  977-82     Citation Subset:  IM    
Institute of Medical Genetics, University of Oslo, Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway.
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MeSH Terms
Addison Disease / epidemiology,  genetics*
Aged, 80 and over
Case-Control Studies
Child, Preschool
Great Britain / epidemiology
Meta-Analysis as Topic
Middle Aged
Mutation, Missense / genetics*
Norway / epidemiology
Polymorphism, Single Nucleotide / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
Reg. No./Substance:
EC protein, human; EC Tyrosine Phosphatase, Non-Receptor Type 22

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