The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis

Am J Hum Genet. 2004 Oct;75(4):587-95. doi: 10.1086/424695. Epub 2004 Aug 12.


Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 2 / genetics*
  • DNA Mutational Analysis
  • DNA Primers
  • Electrophoresis, Agar Gel
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • HLA-B27 Antigen / genetics
  • Haplotypes / genetics
  • Humans
  • Inheritance Patterns / genetics
  • Interleukin-1 / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Spondylitis, Ankylosing / genetics*
  • United Kingdom


  • DNA Primers
  • HLA-B27 Antigen
  • Interleukin-1