Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13
2006 (English)In: Scandinavian Journal of Immunology, ISSN 0300-9475, E-ISSN 1365-3083, Vol. 64, no 3, 308-313 p.Article in journal (Refereed) Published
Systemic lupus erythematosus is a systemic autoimmune disorder of unknown aetiology but is most likely caused by an interaction between several genetic factors and the environment. In a previously published genome scan we presented linkage to a marker on chromosome 4p13 in Icelandic families. Fine mapping of the region has been performed using 10 multicase families from Iceland and the maximum two-point LOD score was given by marker D4S2974 (Z = 3.57, alpha = 1). Multipoint analyses of the markers in the region suggest a putative disease gene to be located between markers D4S405 and D4S2381. The maximum multipoint LOD score (Z = 3.76) was given for marker D4S2974 in combination with the novel repeat GT4C2. A family-specific haplotype was segregating with the disease in each of eight families although a founder haplotype could not be identified. Analysis of recombination events in the patients delimited the susceptibility locus to approximately 3 cM. The susceptibility locus identified probably contains a mutation that has been enriched in the Icelandic population but is less common in other populations. We also show that this region is not identical to a susceptibility locus for SLE located on 4p16 where we detect no linkage.
Place, publisher, year, edition, pages
2006. Vol. 64, no 3, 308-313 p.
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-10607DOI: 10.1111/j.1365-3083.2006.01810.xISI: 000239661500019PubMedID: 16918700OAI: oai:DiVA.org:uu-10607DiVA: diva2:38375