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

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

Andrew E Timms  1 , Alison M Crane, Anne-Marie Sims, Heather J Cordell, Linda A Bradbury, Aaron Abbott, Mark R E Coyne, Owen Beynon, Ibi Herzberg, Gordon W Duff, Andrei Calin, Lon R Cardon, B Paul Wordsworth, Matthew A Brown
Affiliations

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

Andrew E Timms et al. Am J Hum Genet. 2004 Oct.

Abstract

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.

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Figures

Figure 1
Figure 1
Single-marker and two-marker haplotype TDT findings obtained using parent-case trios and multicase families.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for AS, CYP2D6, and genes within IL1 gene cluster)
    1. TRANSMIT, http://www-gene.cimr.cam.ac.uk/clayton/software/ (for TRANSMIT software and description of the bootstrap simulation method)
    1. UW-FHCRC Variation Discovery Resource, http://pga.gs.washington.edu/finished_genes.html

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