Source:http://linkedlifedata.com/resource/pubmed/id/15504986
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
2004-10-26
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pubmed:abstractText |
In the genetic analysis of common, multifactorial diseases, such as type 1 diabetes, true positive irrefutable linkage and association results have been rare to date. Recently, it has been reported that a single nucleotide polymorphism (SNP), 1858C>T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which has been shown to be a negative regulator of T-cell activation, is associated with an increased risk of type 1 diabetes. Here, we have replicated these findings in 1,388 type 1 diabetic families and in a collection of 1,599 case and 1,718 control subjects, confirming the association of the PTPN22 locus with type 1 diabetes (family-based relative risk (RR) 1.67 [95% CI 1.46-1.91], and case-control odds ratio (OR) 1.78 [95% CI 1.54-2.06]; overall P = 6.02 x 10(-27)). We also report evidence for an association of Trp(620) with another autoimmune disorder, Graves' disease, in 1,734 case and control subjects (P = 6.24 x 10(-4); OR 1.43 [95% CI 1.17-1.76]). Taken together, these results indicate a more general association of the PTPN22 locus with autoimmune disease.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0012-1797
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pubmed:author |
pubmed-author:BarrattBryan JBJ,
pubmed-author:ClaytonDavid GDG,
pubmed-author:CollinsJoanne EJE,
pubmed-author:CooperJason DJD,
pubmed-author:DungerDavid BDB,
pubmed-author:FranklynJayne AJA,
pubmed-author:GoughStephen C LSC,
pubmed-author:GujaCristianC,
pubmed-author:HewardJoanne MJM,
pubmed-author:HowsonJoanna M MJM,
pubmed-author:Ionescu-TîrgovisteConstantinC,
pubmed-author:MaierLisaL,
pubmed-author:NutlandSarahS,
pubmed-author:RanceHelen EHE,
pubmed-author:RingSusan MSM,
pubmed-author:SavageDavid ADA,
pubmed-author:SmythDeborahD,
pubmed-author:StrachanDavid PDP,
pubmed-author:ToddJohn AJA,
pubmed-author:TwellsRebecca C JRC,
pubmed-author:VellaAdrianA,
pubmed-author:WalkerNeilN,
pubmed-author:WidmerBarryB
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pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3020-3
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:15504986-Adult,
pubmed-meshheading:15504986-Autoimmunity,
pubmed-meshheading:15504986-Child,
pubmed-meshheading:15504986-Chromosome Mapping,
pubmed-meshheading:15504986-Diabetes Mellitus, Type 1,
pubmed-meshheading:15504986-Female,
pubmed-meshheading:15504986-Genotype,
pubmed-meshheading:15504986-Humans,
pubmed-meshheading:15504986-Male,
pubmed-meshheading:15504986-Nuclear Family,
pubmed-meshheading:15504986-Protein Tyrosine Phosphatase, Non-Receptor Type 1,
pubmed-meshheading:15504986-Protein Tyrosine Phosphatases,
pubmed-meshheading:15504986-Reference Values,
pubmed-meshheading:15504986-Regression Analysis
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pubmed:year |
2004
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pubmed:articleTitle |
Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.
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pubmed:affiliation |
Juvenile Diabetes Research Foundation (JDRF)/Wellcome Trust (WT) Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
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