Linked Life Data

15593299

Source:http://linkedlifedata.com/resource/pubmed/id/15593299

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2005-1-3
pubmed:abstractText
The genes for the human ATP-binding cassette (ABC) transporter ABCA7 and the minor histocompatibility antigen HA-1 are juxtaposed in close proximity on chromosome 19p13.3. The multispan transmembrane protein ABCA7 contains an extracellular domain that is recognized by antisera from patients with Sjögren's syndrome ("Sjögren-epitope"). Recent work from our laboratory demonstrating the involvement of ABCA7 in cellular ceramide and phosphatidylserine export suggests a role for this transporter in programmed cell death. In HA-1, a protein of unknown function, a His/Arg polymorphism (His168Arg), which constitutes the immunologic target for HA-1-specific cytotoxic T cells, has been causatively linked to graft-versus-host disease after allogeneic stem cell transplantation. Because these findings suggest a potential implication of ABCA7 and HA-1 in immune processes, we tested the hypothesis that allelic variants in both genes are associated with autoimmune disorders. We identified a total of 31 exonic single-nucleotide polymorphisms (SNP) in the ABCA7/HA-1 gene complex, nine of which represent non-synonymous nucleotide alterations. Genotypes of ABCA7 and HA-1 SNP were determined in three distinct Caucasian populations of patients with primary Sjögren's syndrome and ethnically matched controls. Comparison of allele frequencies between these groups revealed that the incidence of the HA-1 168His allele is significantly lower in Sjögren's syndrome patients than in controls (p<0.003). In contrast, the frequencies of all ABCA7 allelic variants and additional HA-1 polymorphisms were similar in patients and controls. In cohorts of patients with systemic lupus erythematosus, rheumatoid arthritis and multiple sclerosis, no significant differences in the frequencies of ABCA7 and HA-1 allelic variants were observed relative to controls. Our results suggest that the HA-1 168His variant is associated with reduced susceptibility to primary Sjögren's syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0014-2980
pubmed:author
pubmed:issnType
Print
pubmed:volume
35
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-17
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:15593299-ATP-Binding Cassette Transporters, pubmed-meshheading:15593299-Alleles, pubmed-meshheading:15593299-Arthritis, Rheumatoid, pubmed-meshheading:15593299-Case-Control Studies, pubmed-meshheading:15593299-Chromosomes, Human, Pair 19, pubmed-meshheading:15593299-Cohort Studies, pubmed-meshheading:15593299-Europe, pubmed-meshheading:15593299-Exons, pubmed-meshheading:15593299-Female, pubmed-meshheading:15593299-Gene Frequency, pubmed-meshheading:15593299-Genetic Variation, pubmed-meshheading:15593299-Haplotypes, pubmed-meshheading:15593299-Homozygote, pubmed-meshheading:15593299-Humans, pubmed-meshheading:15593299-Lupus Erythematosus, Systemic, pubmed-meshheading:15593299-Male, pubmed-meshheading:15593299-Minor Histocompatibility Antigens, pubmed-meshheading:15593299-Multigene Family, pubmed-meshheading:15593299-Multiple Sclerosis, pubmed-meshheading:15593299-Oligopeptides, pubmed-meshheading:15593299-Polymorphism, Single Nucleotide, pubmed-meshheading:15593299-Risk Factors, pubmed-meshheading:15593299-Sjogren's Syndrome
pubmed:year
2005
pubmed:articleTitle
Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjögren's syndrome.
pubmed:affiliation
Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, D-93042 Regensburg, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't