PMID- 20230522 OWN - NLM STAT- MEDLINE DCOM- 20101206 LR - 20111117 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 76 IP - 2 DP - 2010 Aug TI - Major histocompatibility complex class II transactivator gene polymorphism: associations with Lofgren's syndrome. PG - 96-101 LID - 10.1111/j.1399-0039.2010.01476.x [doi] AB - 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 Lofgren'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 Lofgren's syndrome in allelic model for the rs3087456 SNP, which was not detected in non-Lofgren'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 Lofgren's syndrome. The finding of a new genetic association between Lofgren'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 Lofgren's syndrome is a separate disease entity. FAU - Grunewald, J AU - Grunewald J AD - Department of Medicine, Division of Respiratory Medicine, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden. johan.grunewald@ki.se FAU - Idali, F AU - Idali F FAU - Kockum, I AU - Kockum I FAU - Seddighzadeh, M AU - Seddighzadeh M FAU - Nisell, M AU - Nisell M FAU - Eklund, A AU - Eklund A FAU - Padyukov, L AU - Padyukov L LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20100310 PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (MHC class II transactivator protein) RN - 0 (Nuclear Proteins) RN - 0 (Trans-Activators) SB - IM MH - Adult MH - Aged MH - Alleles MH - Case-Control Studies MH - Female MH - Gene Frequency MH - *Genes, MHC Class II MH - HLA-DR Antigens/genetics MH - HLA-DRB1 Chains MH - Humans MH - Male MH - Middle Aged MH - Nuclear Proteins/*genetics MH - *Polymorphism, Single Nucleotide MH - Promoter Regions, Genetic MH - Sarcoidosis/classification/*genetics/*immunology MH - Syndrome MH - Trans-Activators/*genetics MH - Young Adult EDAT- 2010/03/17 06:00 MHDA- 2010/12/14 06:00 CRDT- 2010/03/17 06:00 PHST- 2010/03/17 06:00 [entrez] PHST- 2010/03/17 06:00 [pubmed] PHST- 2010/12/14 06:00 [medline] AID - TAN1476 [pii] AID - 10.1111/j.1399-0039.2010.01476.x [doi] PST - ppublish SO - Tissue Antigens. 2010 Aug;76(2):96-101. doi: 10.1111/j.1399-0039.2010.01476.x. Epub 2010 Mar 10.