Characterization of a susceptibility locus for SLE, SLEB5, on chromosome 4p14-13.

C M Johansson, H Kristjánsdottir, G Gröndal, K Steinsson, M E Alarcón-Riquelme

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
JournalScandinavian Journal of Immunology
Publication statusPublished - 1 Sept 2006

Other keywords

  • Chromosomes, Human, Pair 4
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Haplotypes
  • Linkage (Genetics)
  • Lod Score
  • Lupus Erythematosus, Systemic
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Polymorphism, Single Nucleotide


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