Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment

Brown, Matthew A., Kennedy, L. Gail, MacGregor, Alex J., Darke, Chris, Duncan, Emma, Shatford, Jane L., Taylor, Andrew, Calin, Andrei, & Wordsworth, Paul (1997) Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment. Arthritis and Rheumatism, 40(10), pp. 1823-1828.

View at publisher



To determine the relative effects of genetic and environmental factors in susceptibility to ankylosing spondylitis (AS).


Twins with AS were identified from the Royal National Hospital for Rheumatic Diseases database. Clinical and radiographic examinations were performed to establish diagnoses, and disease severity was assessed using a combination of validated scoring systems. HLA typing for HLA-B27, HLA-B60, and HLA-DR1 was performed by polymerase chain reaction with sequence- specific primers, and zygosity was assessed using microsatellite markers. Genetic and environmental variance components were assessed with the program Mx, using data from this and previous studies of twins with AS.


Six of 8 monozygotic (MZ) twin pairs were disease concordant, compared with 4 of 15 B27-positive dizygotic (DZ) twin pairs (27%) and 4 of 32 DZ twin pairs overall (12.5%). Nonsignificant increases in similarity with regard to age at disease onset and all of the disease severity scores assessed were noted in disease-concordant MZ twins compared with concordant DZ twins. HLA-B27 and B60 were associated with the disease in probands, and the rate of disease concordance was significantly increased among DZ twin pairs in which the co- twin was positive for both B27 and DR1. Additive genetic effects were estimated to contribute 97% of the population variance.


Susceptibility to AS is largely genetically determined, and the environmental trigger for the disease is probably ubiquitous. HLA-B27 accounts for a minority of the overall genetic susceptibility to AS.

Impact and interest:

370 citations in Scopus
Search Google Scholar™
306 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 87768
Item Type: Journal Article
Refereed: Yes
Keywords: HLA B antigen, HLA B27 antigen, HLA DR1 antigen, adult, aged, ankylosing spondylitis, article, clinical article, controlled study, disease predisposition, disease severity, dizygotic twins, dna determination, environmental factor, genetic susceptibility, genetic variability, heredity, HLA typing, human, human cell, monozygotic twins, onset age, polymerase chain reaction, priority journal, radiography, scoring system, variance, zygosity, Disease Susceptibility, Diseases in Twins, Environment, HLA Antigens, HLA-B27 Antigen, Humans, Middle Aged, Spondylitis, Ankylosing, Twins, Dizygotic, Twins, Monozygotic
DOI: 10.1002/art.1780401015
ISSN: 0004-3591
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 28 Sep 2015 05:51
Last Modified: 24 Mar 2016 04:39

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page