Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis

Matthew A Brown

doi:10.1186/ar2692

Abstract

The advent of high-throughput SNP genotyping methods has advanced research into the genetics of common complex genetic diseases such as ankylosing spondylitis (AS) rapidly in recent times. The identification of associations with the genes IL23R and ERAP1 have been robustly replicated, and advances have been made in studies of the major histocompatibility complex genetics of AS, and of KIR gene variants and the disease. The findings are already being translated into increased understanding of the immunological pathways involved in AS, and raising novel potential therapies. The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made.

Highlights

Genetic factors are the primary determinants of the risk of developing ankylosing spondylitis (AS) and of its severity [1], as assessed by radiographic measures or by selfadministered questionnaires such as the widely used Bath Ankylosing Spondylitis Disease Activity Index and Bath Ankylosing Spondylitis Functional Index [2,3]
The main disease-causative gene in AS, HLA-B27, was the first gene identified to be associated with any common human arthropathy, and the discovery proved that the familiality of the condition was, to a significant degree, genetically determined
The disease is strongly associated with the gene HLA-B27; only 1 to 5% of B27positive individuals develop AS, and there is increasing evidence to suggest that other genes must be involved

Summary

Introduction

Genetic factors are the primary determinants of the risk of developing ankylosing spondylitis (AS) and of its severity [1], as assessed by radiographic measures or by selfadministered questionnaires such as the widely used Bath Ankylosing Spondylitis Disease Activity Index and Bath Ankylosing Spondylitis Functional Index [2,3]. The disease is strongly associated with the gene HLA-B27; only 1 to 5% of B27positive individuals develop AS, and there is increasing evidence to suggest that other genes must be involved.

Results

Conclusion