Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population

• Published in: Scandinavian journal of rheumatology 2022, Vol.51 (1), p.21-24
• Main Authors: Mathioudaki, A, Nordin, J, Kastbom, A, Söderkvist, P, Eriksson, P, Cedergren, J, Lindblad-Toh, K, Meadows, Jrs
• Format: Article
• Language: English
• Subjects: Gene Frequency; Genetic Predisposition to Disease; HLA-B27 Antigen - genetics; Humans; Reproducibility of Results; Spondylitis, Ankylosing - epidemiology; Spondylitis, Ankylosing - genetics; Sweden - epidemiology
• ISSN: 0300-9742; 1502-7732; 1502-7732
• DOI: 10.1080/03009742.2021.1916202

: The genetic predisposition to ankylosing spondylitis (AS) has been most widely studied in cohorts with European ancestry. However, within Europe, disease prevalence is higher in Sweden. Given this, we aimed to characterize known AS susceptibility variants in a homogeneous Swedish data set, assessing reproducibility and direction of effect. : The power to detect association within an existing Swedish targeted sequencing study (381 controls; 310 AS cases) was examined, and a set of published associations (n = 151) was intersected with available genotypes. Association to disease was calculated using logistic regression accounting for population structure, and status was determined with direct polymerase chain reaction genotyping. : The cases were found to be 92.3% positive, with the data set showing ≥ 80% predictive power to replicate associations, with odds ratios ≥ 1.6 over a range of allele frequencies (0.1-0.7). Thirty-four markers, representing 23 gene loci, were available for investigation. The replicated variants tagged and loci (p