Characterization of a Susceptibility Locus for SLE, SLEB5, on Chromosome 4p14‐13

• Published in: Scandinavian Journal of Immunology
• Main Authors: Johansson, C. M., Kristjánsdottir, H., Gröndal, G., Steinsson, K., Alarcón‐Riquelme, M. E.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2006
• Subjects: Iceland
• Online Access: http://dx.doi.org/10.1111/j.1365-3083.2006.01810.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-3083.2006.01810.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-3083.2006.01810.x

Abstract 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, α = 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.