Pregled bibliografske jedinice broj: 164971
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus // Human genetics, 115 (2004), 230-238 (međunarodna recenzija, članak, znanstveni)
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Naslov
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus
Autori
Johansson, Cecilia ; Zunec, Renata ; García, Mercedes ; Scherbarth, Hugo ; Tate, Guillermo ; Paira, Sergio ; Navarro, Sandra ; Perandones, Carlos ; Gamron, Susana ; Alvarellos, Alejandro ; Graf, Cesar ; Manni, Jorge ; Berbotto, Guillermo ; Palatnik, Simon ; Catoggio, Luis ; Battagliotti, Cristina ; Sebastiani, Gian Domenico ; Migliaresi, Sergio ; Galeazzi, Mauro ; Pons-Estel, Bernardo ; Alarcón-Riquelme, Marta
Izvornik
Human genetics (0340-6717) 115
(2004);
230-238
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
Systemic lupus erythematosus (SLE); microsatellites; genome scan
Sažetak
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the presence of autoantibodies against intracellular components, the formation of immune complexes, and inflammation in various organs, typically the skin and kidney glomeruli. The etiology of the disease is not well understood but is most likely the result of the interaction between genetic and environmental factors. In order to identify susceptibility loci for SLE, we have performed genome scans with microsatellite markers covering the whole genome in families from Argentina, Italy, and Europe. The results reveal a heterogeneous disease with different susceptibility loci in different family sets. We have found significant linkage to chromosome 17p12-q11 in the Argentine set of families. The maximum LOD score was given by marker D17S1294 in combination with D17S1293, when assuming a dominant inheritance model (Z=3.88). We also analyzed a repeat in the promoter region of the NOS2A gene, a strong candidate gene in the region, but no association was found. The locus on chromosome 17 has previously been identified in genetic studies of multiple sclerosis families. Several other interesting regions were found at 1p35, 1q31, 3q26, 5p15, 11q23 and 19q13, confirming previously identified loci for SLE or other autoimmune diseases.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
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Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE