The X-chromosome and susceptibility to ankylosing spondylitis

Hoyle, E., Laval, S. H., Calin, A., Wordsworth, B. P., & Brown, Matthew A. (2000) The X-chromosome and susceptibility to ankylosing spondylitis. Arthritis and Rheumatism, 43(6), pp. 1353-1355.

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Ankylosing spondylitis (AS) affects 0.25-1.0% of the population, and its etiology is incompletely understood. Susceptibility to this highly familial disease (λ(s) = 58) is primarily genetically determined. There is a significant sex bias in AS, and there are differences in recurrence risk to the offspring of affected mothers and fathers, suggesting that there may be an X-linked recessive effect. We undertook an X- chromosome linkage study to determine any contribution of the X-chromosome to AS susceptibility.


A linkage study of the X-chromosome using 234 affected sibling pairs was performed to investigate this hypothesis.


No linkage of the X-chromosome with susceptibility to AS was found. Model- free multipoint linkage analysis strongly excluded any significant genetic contribution (λ ≥1.5) to AS susceptibility encoded on the X-chromosome (logarithm of odds [LOD] <-2.0). Smaller genetic effects (A ≥1.3) were also found to be unlikely (LOD <-1.0).


The sex bias in AS is not explained by X-chromosome-encoded genetic effects. The disease model best explaining the sex bias in occurrence and transmission of AS is a polygenic model with a higher susceptibility threshold in females.

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ID Code: 87777
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: HLA B27 antigen, adult, aged, ankylosing spondylitis, article, autosomal recessive inheritance, disease predisposition, disease transmission, familial disease, female, gene locus, genetic code, genetic linkage, genetic risk, human, major clinical study, major histocompatibility complex, male, priority journal, recurrence risk, X chromosome, Genetic Predisposition to Disease, Humans, Linkage (Genetics), Lod Score, Spondylitis, Ankylosing
DOI: 10.1002/1529-0131(200006)43:6<1353::AID-ANR19>3.0.CO;2-B
ISSN: 0004-3591
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 28 Sep 2015 04:42
Last Modified: 28 Sep 2015 04:42

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