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

Scand J Immunol. 2006 Sep;64(3):308-13. doi: 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, 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 4*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Humans
  • Lod Score
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Polymorphism, Single Nucleotide

Substances

  • Genetic Markers