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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.

Original publication

DOI

10.1086/424695

Type

Journal article

Journal

American Journal of Human Genetics

Publication Date

10/2004

Volume

75

Pages

587 - 595

Addresses

Institute of Musculoskeletal Sciences, University of Oxford, Botnar Research Centre, Oxford, United Kingdom.

Keywords

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