Investigation of the role of ANKH in ankylosing spondylitis

Timms, A. E., Zhang, Y., Bradbury, L., Wordsworth, B. P., & Brown, M. A. (2003) Investigation of the role of ANKH in ankylosing spondylitis. Arthritis and Rheumatism, 48(10), pp. 2898-2902.

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Abstract

Objective

The ank/ank mouse develops a phenotype similar to ankylosing spondylitis (AS) in humans. ANKH, the human homolog of the mutated gene in the ank/ank mouse, has been implicated in familial autosomal-dominant chondrocalcinosis and autosomal-dominant craniometaphyseal dysplasia. This study was undertaken to investigate the role of ANKH in susceptibility to and clinical manifestations of AS.

Methods

Sequence variants were identified by genomic sequencing of the 12 ANKH exons and their flanking splice sites in 48 AS patients; variants were then screened in 233 patients and 478 controls. Linkage to the ANKH locus was assessed in 185 affected-sibling-pair families.

Results

Five single-nucleotide polymorphisms were identified within the coding region and flanking splice sites. No association between either susceptibility to AS or its clinical manifestations and these novel polymorphisms, or between disease susceptibility and 3 known promoter variants, was seen. No linkage between the ANKH locus and AS was observed. Multipoint exclusion mapping rejected the hypothesis of a locus of a magnitude λ≥1.4 (logarithm of odds score <-2) (equivalent to a genetic contribution of >10% to the AS sibling recurrence risk ratio) within this area contributing to AS.

Conclusion

These findings indicate that ANKH is not significantly involved in susceptibility to or clinical manifestations of AS.

Impact and interest:

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ID Code: 87784
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: DNA, adult, ankh gene, ankylosing spondylitis, article, controlled study, DNA sequence, female, gene, gene mutation, genetic linkage, human, major clinical study, male, polymerase chain reaction, priority journal, single nucleotide polymorphism, spine disease, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage (Genetics), Membrane Proteins, Phenotype, Phosphate Transport Proteins, Polymorphism, Genetic, Spondylitis, Ankylosing
DOI: 10.1002/art.11258
ISSN: 0004-3591
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 25 Sep 2015 02:44
Last Modified: 25 Sep 2015 02:44

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