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• W2155250089 abstract "<h3>Background and aims</h3> Autoimmune pancreatitis (AIP) represents a rare but clinically relevant cause of pancreatic inflammation. Using MRL/Mp mice as a model of spontaneous AIP, the genetic basis of the disease was studied. <h3>Methods</h3> To identify quantitative trait loci (QTL) of AIP, an advanced intercross line was studied, originating from MRL/MpJ parental mice and the following three mouse strains: Cast (healthy controls), BXD2 (susceptible to collagen induced arthritis), and NZM (a model of lupus erythematosus). This concept was chosen to identify both general autoimmune disease associated loci and AIP specific QTL. Therefore, generation G4 of outbred intercross mice was characterised phenotypically by scoring histopathological changes of the pancreas and genotyped with single nucleotide polymorphism (SNP) arrays. Data were analysed with the R implementation of <i>HAPPY</i>. <h3>Results</h3> Five QTLs, correlating with the severity of AIP, were identified. Two of them mapped to chromosome 4 and one to chromosomes 2, 5, and 6, respectively. The QTL on chromosome 6 displays the highest LOD score (5.4) and contains the <i>C-type lectin domain family 4 member a2</i> in its peak region, which encodes a receptor protein of dendritic cells that has previously been implicated in autoimmune diseases such as Sjogren9s syndrome. AIP candidate genes of other QTL9s include <i>heterogeneous nuclear ribonucleoprotein A3</i>; <i>nuclear factor, erythroid derived 2</i>, <i>like 2; Sjogren syndrome antigen B</i>; and <i>ubiquitin protein ligase E3 component n-recognin 3</i>. <h3>Conclusions</h3> This study has identified QTLs and putative candidate genes of murine AIP. Their functional role and relevance to human AIP will be studied further." @default.
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• W2155250089 date "2011-06-27" @default.
• W2155250089 modified "2023-09-23" @default.
• W2155250089 title "Identification of quantitative trait loci for murine autoimmune pancreatitis" @default.
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• W2155250089 doi "https://doi.org/10.1136/jmg.2011.089730" @default.
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