Links

Tools

Export citation

Search in Google Scholar

Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci

Journal article published in 2013 by Igas International Genetics of Ankylosing Spondylitis Consortium, Carlos lopez-Larrea, Irene E. van der Horst-Bruinsma, Xiaodong Zhou, Jian Yang ORCID, Adrian Cortes, Johanna Hadler, Jenny P. Pointon, Philip C. Robinson, Tugce Karaderi, Paul Leo, Katie Cremin, Karena Pryce, Kyung Bin Joo, Jessica Harris and other authors.
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Question mark in circle
Preprint: policy unknown
Question mark in circle
Postprint: policy unknown
Question mark in circle
Published version: policy unknown

Abstract

Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis–associated haplotypes at 11 loci. Two ankylosing spondylitis–associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression.