S S Johnsen1, G Bakland, J C Nossent. 1. Faculty of Health Sciences, Institute of Clinical Medicine, University of Tromsø , Tromsø , Norway.
Abstract
BACKGROUND: Although the high prevalence of human leucocyte antigen (HLA)-B27 and ankylosing spondylitis (AS) in Northern Norway is now well documented, data on the distribution of HLA-B27 subtypes and their potential impact on disease presentation and course are lacking. METHOD: We conducted a cross-sectional study of patients (n = 124) with established (modified New York criteria) AS participating in a longitudinal disease registry. Clinical data at the time of sample collection were recorded and genotyping for HLA-B27 was performed by low-resolution polymerase chain reaction (PCR) screening. Subtyping was then performed with sequence-specific primers (PCR-SSP) and direct exon 2 and 3 sequencing. The results were analysed with SCORE and Seqscape software. RESULTS: Four patients (3%) were HLA-B27 negative in all genetic analyses. In the remaining 120 HLA-B27-positive patients, HLA-B27*05 was present in 117 (98%) and HLA-B27*02 in three patients (2%). There was complete concordance between the screening and subtyping results. The three patients with HLA-B27*02 had no distinguishing clinical characteristics. CONCLUSIONS: HLA-B27*05 is the predominant subtype of HLA-B27 in Northern Norway. This supports the concept of a North-South gradient for HLA-B27 subtypes with little regional drive to adapt to environmental challenges. Low-resolution HLA-B27 PCR screening captures all relevant subtypes in this region.
BACKGROUND: Although the high prevalence of human leucocyte antigen (HLA)-B27 and ankylosing spondylitis (AS) in Northern Norway is now well documented, data on the distribution of HLA-B27 subtypes and their potential impact on disease presentation and course are lacking. METHOD: We conducted a cross-sectional study of patients (n = 124) with established (modified New York criteria) AS participating in a longitudinal disease registry. Clinical data at the time of sample collection were recorded and genotyping for HLA-B27 was performed by low-resolution polymerase chain reaction (PCR) screening. Subtyping was then performed with sequence-specific primers (PCR-SSP) and direct exon 2 and 3 sequencing. The results were analysed with SCORE and Seqscape software. RESULTS: Four patients (3%) were HLA-B27 negative in all genetic analyses. In the remaining 120 HLA-B27-positive patients, HLA-B27*05 was present in 117 (98%) and HLA-B27*02 in three patients (2%). There was complete concordance between the screening and subtyping results. The three patients with HLA-B27*02 had no distinguishing clinical characteristics. CONCLUSIONS:HLA-B27*05 is the predominant subtype of HLA-B27 in Northern Norway. This supports the concept of a North-South gradient for HLA-B27 subtypes with little regional drive to adapt to environmental challenges. Low-resolution HLA-B27 PCR screening captures all relevant subtypes in this region.
Authors: N Cubino; C Montilla; R Usategui-Martín; C Cieza-Borrela; T Carranco; I Calero-Paniagua; A Quesada; J D Cañete; R Queiro; M D Sánchez; C Hidalgo; O Martínez; J Del Pino-Montes; A Díaz-Álvarez; R González-Sarmiento Journal: Clin Rheumatol Date: 2016-05-17 Impact factor: 2.980