Περίληψη:
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 © Springer-Verlag 2004.
Συγγραφείς:
Johansson, C.M.
Zunec, R.
Garía, M.A.
Scherbarth, H.R.
Tate, G.A.
Paira, S.
Navarro, S.M.
Perandones, C.E.
Gamron, S.
Alvarellos, A.
Graf, C.E.
Manni, J.
Berbotto, G.A.
Palatnik, S.A.
Catoggio, L.J.
Battagliotti, C.G.
Sebastiani, G.D.
Migliaresi, S.
Galeazzi, M.
Pons-Estel, B.A.
Alarcón-Riquelme, M.E.
Gunnarsson, I.
Svennungson, E.
Gordon, C.
Jonsson, R.
Moutsopoulos, H.
Doria, A.
Marcos, J.C.
Marcos, A.I.
Marino, P.C.
Motta, E.L.
Allevi, A.
Presas, J.L.
Roverano, A.
Louteiro, C.
Ramos, F.A.
Prigione, C.S.
Eimon, A.
Drenkard, C.
Menso, E.
Caeiro, F.
Bertoli, A.
Caprarulo, C.
Buchanan, G.
Bertero, E.
Grimaudo, S.
Guillersn, C.
Jorfen, M.
Romero, E.J.
Abdala, M.
Bearzotti, M.
Soriano, E.R.
Santos, C.D.
Battagliotti, C.A.
Λέξεις-κλειδιά:
adult; Argentina; article; autoimmune disease; autosomal dominant inheritance; chromosome 11q; chromosome 17p; chromosome 19q; chromosome 1p; chromosome 1q; chromosome 3q; chromosome 5p; controlled study; Europe; family; gene locus; genetic association; genetic identification; genetic linkage; genetic model; genetic susceptibility; genome analysis; human; Italy; major clinical study; microsatellite marker; multiple sclerosis; priority journal; promoter region; statistical significance; systemic lupus erythematosus; aged; Argentina; chromosome 17; chromosome map; Europe; female; genetic predisposition; genetics; genotype; Italy; jurisprudence; male; middle aged; pedigree; systemic lupus erythematosus, Argentina (fish), microsatellite DNA, Adult; Aged; Argentina; Chromosome Mapping; Chromosomes, Human, Pair 17; Europe; Female; Genetic Predisposition to Disease; Genotype; Humans; Italy; Lupus Erythematosus, Systemic; Male; Microsatellite Repeats; Middle Aged; Pedigree; Promoter Regions (Genetics); Wills
