Document Detail


Major histocompatibility complex class II transactivator gene polymorphism: associations with Löfgren's syndrome.
MedLine Citation:
PMID:  20230522     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J Grunewald; F Idali; I Kockum; M Seddighzadeh; M Nisell; A Eklund; L Padyukov
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-03-10
Journal Detail:
Title:  Tissue antigens     Volume:  76     ISSN:  1399-0039     ISO Abbreviation:  Tissue Antigens     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-28     Completed Date:  2010-12-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0331072     Medline TA:  Tissue Antigens     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  96-101     Citation Subset:  IM    
Affiliation:
Department of Medicine, Division of Respiratory Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. johan.grunewald@ki.se
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MeSH Terms
Descriptor/Qualifier:
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:
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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