Document Detail


The association between the PTPN22 1858C>T variant and type 1 diabetes depends on HLA risk and GAD65 autoantibodies.
MedLine Citation:
PMID:  20445565     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The single nucleotide polymorphism 1858C>T in the PTPN22 gene is associated with type 1 diabetes (T1D) in several populations. Earlier reports have suggested that the association may be modified by human leukocyte antigen (HLA), as well as by islet autoantibodies. In a large case-control study of Swedish incident T1D patients and controls, 0-34 years of age, we tested whether the odds ratio (OR) measure of association was dependent on HLA or autoantibodies against the islet autoantigens glutamic acid decarboxylase 65 kDa autoantibodies (GADA), insulin, islet antigen-2, or islet cell. The association between the carrier status of 1858C>T allele in PTPN22 (PTPN22(CT+TT)) and T1D was modified by HLA. In addition, in GADA-positive T1D, the OR was 2.83 (2.00, 3.99), whereas in GADA-negative T1D, the OR was 1.41 (0.98, 2.04) (P for comparison=0.007). The OR of association between PTPN22(CT+TT) and GADA-positive T1D declined with increasing HLA-risk category from 6.12 to 1.54 (P=0.003); no such change was detected in GADA-negative T1D (P=0.722) (P for comparison=0.001). However, the absolute difference in risk between PTPN22(CC) and PTPN22(CT+TT) subjects with high-risk HLA was five times higher than that for subjects with low-risk HLA. We hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis.
Authors:
M Maziarz; M Janer; J C Roach; W Hagopian; J P Palmer; K Deutsch; C B Sanjeevi; I Kockum; N Breslow; A Lernmark; ;
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2010-05-06
Journal Detail:
Title:  Genes and immunity     Volume:  11     ISSN:  1476-5470     ISO Abbreviation:  Genes Immun.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-21     Completed Date:  2010-10-28     Revised Date:  2011-09-26    
Medline Journal Info:
Nlm Unique ID:  100953417     Medline TA:  Genes Immun     Country:  England    
Other Details:
Languages:  eng     Pagination:  406-15     Citation Subset:  IM    
Affiliation:
Department of Biostatistics, University of Washington, Seattle, WA 98195-7232, USA. marlenam@u.washington.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age Factors
Autoantibodies / immunology,  metabolism*
Case-Control Studies
Child
Child, Preschool
Diabetes Mellitus, Type 1 / genetics*
Female
Genetic Predisposition to Disease / genetics*
Genome-Wide Association Study
Genotype
Glutamate Decarboxylase / immunology*
HLA Antigens / genetics*
Humans
Infant
Infant, Newborn
Male
Odds Ratio
Polymorphism, Single Nucleotide / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
Risk Assessment
Sweden
Grant Support
ID/Acronym/Agency:
5 P30 DK17047/DK/NIDDK NIH HHS; DK053004/DK/NIDDK NIH HHS; DK26910/DK/NIDDK NIH HHS; DK53004/DK/NIDDK NIH HHS; P01 DK053004-04/DK/NIDDK NIH HHS; R01 DK026190/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Autoantibodies; 0/HLA Antigens; EC 3.1.3.48/PTPN22 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 22; EC 4.1.1.15/Glutamate Decarboxylase; EC 4.1.1.15/glutamate decarboxylase 2
Comments/Corrections

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