Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis

Jaakkola, E., Herzberg, I., Laiho, K., Barnardo, M. C. N. M., Pointon, J. J., Kauppi, M., Kaarela, K., Tuomilehto-Wolf, E., Tuomilehto, J., Wordsworth, B. P., & Brown, M A (2006) Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Annals of the Rheumatic Diseases, 65(6), pp. 775-780.

View at publisher


Objective: To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population.

Methods: 673 individuals from 261 families with ankylosing spondylitis were genotyped for HLA-DRB1 alleles and HLA-B27 heterozygosity/ homozygosity. The frequencies of HLA-B27 homozygotes in probands from these families were compared with the expected number of HLA-B27 homozygotes in controls under Hardy-Weinberg equilibrium (HWE). The effect of HLA-DRB1 alleles was assessed using a logistic regression procedure conditioned on HLA-B27 and case-control analysis.

Results: HLA-B27 was detected in 93% of cases of ankylosing spondylitis. An overrepresentation of HLA-B27 homozygotes was noted in ankylosing spondylitis (11%) compared with the expected number of HLA-B27 homozygotes under HWE (4%) (odds ratio (OR) = 3.3 (95% confidence interval, 1.6 to 6.8), p = 0.002). HLA-B27 homozygosity was marginally associated with reduced BASDAI (HLA-B27 homozygotes, 4.5 (1.6); HLA-B27 heterozygotes, 5.4 (1.8) (mean (SD)), p = 0.05). Acute anterior uveitis (AAU) was present in significantly more HLA-B27 positive cases (50%) than HLA-B27 negative cases (16%) (OR = 5.4 (1.7 to 17), p<0.004). HLA-B27 positive cases had a lower average age of symptom onset (26.7 (8.0) years) compared with HLA-B27 negative cases (35.7 (11.2) years) (p<0.0001).

Conclusions: HLA-627 homozygosity is associated with a moderately increased risk of ankylosing spondylitis compared with HLA-β27 heterozygosity. HLA-B27 positive cases had an earlier age of onset of ankylosing spondylitis than HLA-B27 negative cases and were more likely to develop AAU. HLA-DRB1 alleles may influence the age of symptom onset of ankylosing spondylitis.

Impact and interest:

59 citations in Scopus
Search Google Scholar™
41 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: 87740
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Additional URLs:
Keywords: HLA B27 antigen, HLA DR antigen, adult, allele, ankylosing spondylitis, article, controlled study, disease predisposition, disease severity, female, Finland, genotype, haplotype, HLA system, homozygosity, human, iridocyclitis, major clinical study, male, priority journal, protein expression, risk factor, Alleles, Case-Control Studies, Gene Frequency, Genetic Predisposition to Disease, Haplotypes, Histocompatibility Testing, HLA-B27 Antigen, HLA-DR Antigens, Homozygote, Humans, Logistic Models, Middle Aged, Risk Assessment, Spondylitis, Ankylosing
DOI: 10.1136/ard.2005.041103
ISSN: 0003-4967
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 24 Sep 2015 04:39
Last Modified: 16 Feb 2016 04:00

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page