| Major histocompatibility complex class II transactivator gene polymorphism: associations with Löfgren's syndrome. | |
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MedLine Citation:
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PMID: 20230522 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The major histocompatibility complex (MHC) class II transactivator (MHC2TA) is known as a master regulator for expression of MHC class II molecules. In the present study, we investigated the influence on the risk for sarcoidosis of two variants of the MHC2TA gene, selected from previous association studies of inflammatory diseases. Seven hundred and twenty-eight sarcoidosis patients and 873 controls matched by ethnicity were included in the study. Patients were classified as with Löfgren's syndrome (or not) as subphenotypes. Individuals were genotyped for two single nucleotide polymorphisms (SNPs) of the MHC2TA gene, rs3087456 A/G and rs11074932 C/T, and were human leukocyte antigen (HLA)-DRB1-typed. After correction for multiple testing, our data showed a significant association with Löfgren's syndrome in allelic model for the rs3087456 SNP, which was not detected in non-Löfgren's patients. A similar trend was noted for the rs11074932 SNP. These risk factors were independent of HLA-DRB1*03, which is known to be associated with Löfgren's syndrome. The finding of a new genetic association between Löfgren's syndrome and MHC2TA gene polymorphisms, which seems independent of HLA-DRB1*03 and relates to the expression of MHC class II molecules, strongly supports the idea that Löfgren's syndrome is a separate disease entity. |
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Authors:
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J Grunewald; F Idali; I Kockum; M Seddighzadeh; M Nisell; A Eklund; L Padyukov |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-10 |
Journal Detail:
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Title: Tissue antigens Volume: 76 ISSN: 1399-0039 ISO Abbreviation: Tissue Antigens Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-28 Completed Date: 2010-12-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0331072 Medline TA: Tissue Antigens Country: Denmark |
Other Details:
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Languages: eng Pagination: 96-101 Citation Subset: IM |
Affiliation:
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Department of Medicine, Division of Respiratory Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. johan.grunewald@ki.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Alleles Case-Control Studies Female Gene Frequency Genes, MHC Class II* HLA-DR Antigens / genetics Humans Male Middle Aged Nuclear Proteins / genetics* Polymorphism, Single Nucleotide* Promoter Regions, Genetic Sarcoidosis / classification, genetics*, immunology* Syndrome Trans-Activators / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/HLA-DR Antigens; 0/MHC class II transactivator protein; 0/Nuclear Proteins; 0/Trans-Activators; 128338-86-3/HLA-DRB1 antigen |
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