Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.
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.
Johansson
Cecilia M
CM
Department of Genetics and Pathology, Unit for Medical Genetics, Rudbeck Laboratory, University of Uppsala, Dag Hammarskjölds Väg 20, Uppsala, Sweden.
Zunec
Renata
R
García
Mercedes A
MA
Scherbarth
Hugo R
HR
Tate
Guillermo A
GA
Paira
Sergio
S
Navarro
Sandra M
SM
Perandones
Carlos E
CE
Gamron
Susana
S
Alvarellos
Alejandro
A
Graf
Cesar E
CE
Manni
Jorge
J
Berbotto
Guillermo A
GA
Palatnik
Simon A
SA
Catoggio
Luis J
LJ
Battagliotti
Cristina G
CG
Sebastiani
Gian Domenico
GD
Migliaresi
Sergio
S
Galeazzi
Mauro
M
Pons-Estel
Bernardo A
BA
Alarcón-Riquelme
Marta E
ME
D000328:Adult; D000368:Aged; D001118:Argentina / Q000453:epidemiology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D011401:Promoter Regions, Genetic