Source:http://linkedlifedata.com/resource/pubmed/id/11863360
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2002-2-26
|
| pubmed:databankReference | |
| pubmed:abstractText |
Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We genotyped 644 individuals, from 195 Swedish psoriatic families, for 19 polymorphisms. Linkage disequilibrium (LD) between marker and disease was assessed using the transmission/disequilibrium test (TDT). In the TDT analysis, alleles of three of these SNPs showed significant association with disease (P<0.05). A 160-kb interval encompassing these three SNPs was sequenced, and a coding sequence consisting of 13 exons was identified. The predicted protein shares 30-40% homology with the family of cation/chloride cotransporters. A five-marker haplotype spanning the 3' half of this gene is associated with psoriasis to a P value of 3.8<10(-5). We have called this gene SLC12A8, coding for a member of the solute carrier family 12 proteins. It belongs to a class of genes that were previously unrecognized as playing a role in psoriasis pathogenesis.
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| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
0888-7543
|
| pubmed:author |
pubmed-author:CantoneKathrynK,
pubmed-author:ChadhaSapnaS,
pubmed-author:ChristodolouChrisC,
pubmed-author:EnerbackCharlottaC,
pubmed-author:EnlundFredrikF,
pubmed-author:HewettDuncanD,
pubmed-author:InerotAnnicaA,
pubmed-author:MartinssonTommyT,
pubmed-author:MatthewsPaulP,
pubmed-author:MontgomeryDougD,
pubmed-author:PlumptonMaryM,
pubmed-author:PoldingJoanneJ,
pubmed-author:PurvisIanI,
pubmed-author:RileyJohnJ,
pubmed-author:RobinsonPhilP,
pubmed-author:RosesAllenA,
pubmed-author:SamuelssonLenaL,
pubmed-author:SeeChee GeeCG,
pubmed-author:SmartDeviD,
pubmed-author:SwanbeckGunnarG,
pubmed-author:WahlstromJanJ
|
| pubmed:issnType |
Print
|
| pubmed:volume |
79
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
305-14
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:11863360-Amino Acid Sequence,
pubmed-meshheading:11863360-Base Sequence,
pubmed-meshheading:11863360-Chromosome Mapping,
pubmed-meshheading:11863360-Chromosomes, Human, Pair 3,
pubmed-meshheading:11863360-Female,
pubmed-meshheading:11863360-Genetic Predisposition to Disease,
pubmed-meshheading:11863360-Genome, Human,
pubmed-meshheading:11863360-Humans,
pubmed-meshheading:11863360-Linkage Disequilibrium,
pubmed-meshheading:11863360-Male,
pubmed-meshheading:11863360-Membrane Transport Proteins,
pubmed-meshheading:11863360-Molecular Sequence Data,
pubmed-meshheading:11863360-Polymorphism, Single Nucleotide,
pubmed-meshheading:11863360-Psoriasis,
pubmed-meshheading:11863360-Sodium-Potassium-Chloride Symporters
|
| pubmed:year |
2002
|
| pubmed:articleTitle |
Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.
|
| pubmed:affiliation |
UK Discovery Genetics, GlaxoSmithKline Research and Development, Medicines Research Centre, Gunnels Wood Road, Stevenage, Hertfordshire, SG1 2NY, UK.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|