Source:http://linkedlifedata.com/resource/pubmed/id/11348465
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
2001-5-11
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pubmed:abstractText |
The PSORS1 locus in the human major histocompatibility complex on 6p21 has been consistently associated with psoriasis in populations of diverse ethnicity. The HLA-C allele Cw*0602, located therein, has been found in up to 67% of psoriasis patients but is no longer considered a candidate gene in itself. The alpha-helix coiled-coil rod homolog gene (HCR, previously Pg8) is located 110 kb from the HLA-C gene, positioned between the CDSN and SC1 genes, within a region thought to harbor a psoriasis gene (PSORS1). We investigated the HCR gene for disease association by direct sequencing of nine polymerase chain reaction products amplified from a series of Swedish psoriasis patients and controls. We found that HCR is a very polymorphic gene with 25 polymorphisms in the open reading frame alone, of which 10 demonstrated disease association; however, the relationship between HCR polymorphisms and HLA-Cw*0602 indicates that HCR cannot truly be considered a likely candidate gene. We investigated Cw*0602 association while stratifying for HCR single nucleotide polymorphisms. We also investigated HCR single nucleotide polymorphism association with the disease while stratifying for the presence of Cw*0602. We found that whichever single nucleotide polymorphism that was stratified for, there was still a strongly significant Cw*0602 association with psoriasis; however, when we stratified for Cw*0602 presence, only one silent polymorphism showed significant association. In a recent similar study this polymorphism was actually found to be decreased in psoriasis individuals. Thus we conclude that HCR polymorphisms display association with psoriasis due to linkage disequilibrium with Cw*0602 and is, therefore, unlikely to be directly involved in the development of psoriasis.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-202X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
116
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
750-4
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11348465-Adolescent,
pubmed-meshheading:11348465-Adult,
pubmed-meshheading:11348465-Child,
pubmed-meshheading:11348465-Chromosomes, Human, Pair 6,
pubmed-meshheading:11348465-Conserved Sequence,
pubmed-meshheading:11348465-Female,
pubmed-meshheading:11348465-Genetic Predisposition to Disease,
pubmed-meshheading:11348465-Humans,
pubmed-meshheading:11348465-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:11348465-Male,
pubmed-meshheading:11348465-Middle Aged,
pubmed-meshheading:11348465-Polymorphism, Genetic,
pubmed-meshheading:11348465-Proteins,
pubmed-meshheading:11348465-Psoriasis,
pubmed-meshheading:11348465-Reference Values
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pubmed:year |
2001
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pubmed:articleTitle |
The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.
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pubmed:affiliation |
Department of Dermatology, Karolinska Hospital, Stockholm, Sweden.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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