Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

Robinson, Philip C, Leo, Paul J, Pointon, Jennifer J, Harris, Jessica, Cremin, Katie, Bradbury, Linda A, Stebbings, Simon, Harrison, Andrew A, Australian Osteoporosis Genetics Consortium, Wellcome Trust Case Control Consortium, Management Committee, Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, Publications Committee, Duncan, Emma L, Evans, David M, Wordsworth, Paul B and Brown, Matthew A (2016) Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease. NPJ genomic medicine, 1 -6. doi:10.1038/npjgenmed.2016.8


Author Robinson, Philip C
Leo, Paul J
Pointon, Jennifer J
Harris, Jessica
Cremin, Katie
Bradbury, Linda A
Stebbings, Simon
Harrison, Andrew A
Australian Osteoporosis Genetics Consortium
Wellcome Trust Case Control Consortium
Management Committee
Data and Analysis Group
DNA, Genotyping, Data QC and Informatics Group
Publications Committee
Duncan, Emma L
Evans, David M
Wordsworth, Paul B
Brown, Matthew A
Title Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease
Journal name NPJ genomic medicine
ISSN 2056-7944
Publication date 2016-05-04
Year available 2016
Sub-type Article (original research)
DOI 10.1038/npjgenmed.2016.8
Open Access Status DOI
Volume 1
End page 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract Ankylosing spondylitis (AS) is a common chronic immune-mediated arthropathy affecting primarily the spine and pelvis. The condition is strongly associated with HLA-B*27 as well as other human leukocyte antigen variants and at least 47 individual non-MHC-associated variants. However, substantial additional heritability remains as yet unexplained. To identify further genetic variants associated with the disease, we undertook an association study of AS in 5,040 patients and 21,133 healthy controls using the Illumina Exomechip microarray. A novel association achieving genome-wide significance was noted at CDKAL1. Suggestive associations were demonstrated with common variants in FAM118A, C7orf72 and FAM114A1 and with a low-frequency variant in PNPLA1. Two of the variants have been previously associated with inflammatory bowel disease (IBD; CDKAL1 and C7orf72). These findings further increase the evidence for the marked similarity of genetic risk factors for IBD and AS, consistent with the two diseases having similar aetiopathogenesis.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

 
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Created: Wed, 10 Jan 2018, 19:32:14 EST