Harangi, Mariann and Kaminski, Wolfgang E. and Fleck, Martin and Orso, Evelyn and Zeher, Margit and Kiss, Emese and Szekanecz, Zoltán and Zilahi, Erika and Marienhagen, Joerg and Aslanidis, Charalampos and Paragh, György and Bolstad, Anne Isine and Jonsson, Roland and Schmitz, Gerd (2005) Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome. EUROPEAN JOURNAL OF IMMUNOLOGY, 35 (1). pp. 305-317. ISSN 0014-2980, 1521-4141
Full text not available from this repository. (Request a copy)Abstract
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 Sjogren's syndrome ("Sjogren-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 (Hisl68Arg), 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 nonsynonymous nucleotide alterations. Genotypes of ABCA7 and HA-1 SNP were determined in three distinct Caucasian populations of patients with primary Sjogren'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 Sjogren'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 Sjogren's syndrome.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | VERSUS-HOST-DISEASE; MARROW TRANSPLANTATION; TRANSPORTER ABCA7; TANGIER-DISEASE; CRITERIA; GENE; CLASSIFICATION; DISPARITY; LINKAGE; minor histocompatibility antigen; HA-1; ABCA7; Sjogren's syndrome; single-nucleotide; polymorphisms |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin Medicine > Lehrstuhl für Röntgendiagnostik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Jun 2021 06:29 |
| Last Modified: | 02 Jun 2021 06:29 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36685 |
Actions (login required)
 |
View Item |
