Source:http://linkedlifedata.com/resource/pubmed/id/18340360
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
2008-4-23
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pubmed:abstractText |
Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating KIR-HLA gene combinations in disease. Here, we characterized KIR-HLA pairs in BCR patients and controls carrying HLA-A*29 as well as controls lacking HLA-A*29. KIR-HLA pairs implicated for weak inhibition (KIR2DL2/3+HLA-C1 and KIR3DL1+HLA-Bw4(T80)) in combination with activating KIR genes associated with autoimmunity (KIR2DS2, 2DS3 and 2DS4) augment the risk of developing BCR in HLA-A*29-positive individuals. The reciprocal association of strong inhibitory pairs (KIR3DL1+HLA-Bw4(I80) and KIR2DL1+HLA-C2) in combination with those implicated in protection from infection (KIR3DS1+HLA-Bw4(I80) and KIR2DS1+HLA-C2) was observed in HLA-A*29-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/HLA-A Antigens,
http://linkedlifedata.com/resource/pubmed/chemical/HLA-A29 antigen,
http://linkedlifedata.com/resource/pubmed/chemical/KIR2DS2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/KIR3DL1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, KIR,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, KIR3DL1
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1476-5470
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pubmed:author |
pubmed-author:BrezinA PAP,
pubmed-author:CohenJ H MJH,
pubmed-author:DeJJ,
pubmed-author:GjertsonD WDW,
pubmed-author:HollandG NGN,
pubmed-author:LevinsonR DRD,
pubmed-author:MUR,
pubmed-author:MonneyCC,
pubmed-author:RajalingamRR,
pubmed-author:ReedE FEF,
pubmed-author:TabaruHH,
pubmed-author:ZhaoLL
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pubmed:issnType |
Electronic
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
249-58
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:18340360-Autoimmunity,
pubmed-meshheading:18340360-Base Sequence,
pubmed-meshheading:18340360-Chorioretinitis,
pubmed-meshheading:18340360-European Continental Ancestry Group,
pubmed-meshheading:18340360-France,
pubmed-meshheading:18340360-Gene Expression Regulation,
pubmed-meshheading:18340360-Genetic Predisposition to Disease,
pubmed-meshheading:18340360-Genotype,
pubmed-meshheading:18340360-HLA-A Antigens,
pubmed-meshheading:18340360-Humans,
pubmed-meshheading:18340360-Killer Cells, Natural,
pubmed-meshheading:18340360-Molecular Sequence Data,
pubmed-meshheading:18340360-Receptors, KIR,
pubmed-meshheading:18340360-Receptors, KIR3DL1,
pubmed-meshheading:18340360-Sequence Analysis, DNA
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pubmed:year |
2008
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pubmed:articleTitle |
Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals.
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pubmed:affiliation |
Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California at Los Angeles, CA 90095-1652, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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