pubmed-article:16235096 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1415562 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C0028778 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C0019751 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1867449 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1419045 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1539075 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1332705 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C1413299 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C0475264 | lld:lifeskim |
pubmed-article:16235096 | lifeskim:mentions | umls-concept:C0018591 | lld:lifeskim |
pubmed-article:16235096 | pubmed:issue | 3-4 | lld:pubmed |
pubmed-article:16235096 | pubmed:dateCreated | 2006-1-10 | lld:pubmed |
pubmed-article:16235096 | pubmed:abstractText | Psoriasis is a complex inflammatory disease of the skin affecting 1-2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3' introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1. | lld:pubmed |
pubmed-article:16235096 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16235096 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16235096 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16235096 | pubmed:language | eng | lld:pubmed |
pubmed-article:16235096 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16235096 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:16235096 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:16235096 | pubmed:month | Dec | lld:pubmed |
pubmed-article:16235096 | pubmed:issn | 0340-6717 | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:CaoLiL | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:MenterAlanA | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:Taillon-Mille... | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:KwokPui-YanPY | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:GordonDerekD | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:OttJurgJ | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:DuanShenghuiS | lld:pubmed |
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pubmed-article:16235096 | pubmed:author | pubmed-author:RiceJohnJ | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:HelmsCynthiaC | lld:pubmed |
pubmed-article:16235096 | pubmed:author | pubmed-author:HsuTony MTM | lld:pubmed |
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pubmed-article:16235096 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:16235096 | pubmed:volume | 118 | lld:pubmed |
pubmed-article:16235096 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:16235096 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:16235096 | pubmed:pagination | 466-76 | lld:pubmed |
pubmed-article:16235096 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
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pubmed-article:16235096 | pubmed:meshHeading | pubmed-meshheading:16235096... | lld:pubmed |
pubmed-article:16235096 | pubmed:year | 2005 | lld:pubmed |
pubmed-article:16235096 | pubmed:articleTitle | Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. | lld:pubmed |
pubmed-article:16235096 | pubmed:affiliation | Department of Genetics, Washington University School of Medicine, Box 8232, 4566 Scott Avenue, St. Louis, Missouri, 63110, USA. | lld:pubmed |
pubmed-article:16235096 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:16235096 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
pubmed-article:16235096 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
entrez-gene:3107 | entrezgene:pubmed | pubmed-article:16235096 | lld:entrezgene |
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