Robinson, PC;
Leo, PJ;
Pointon, JJ;
Harris, J;
Cremin, K;
Bradbury, LA;
Stebbings, S;
... Wark, J; + view all
(2016)
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
npj Genomic Medicine
, 3
, Article 16008. 10.1038/npjgenmed.2016.8.
Preview |
Text
Bramon_Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease_VoR.pdf - Published Version Download (386kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/npjgenmed.2016.8 |
| Publisher version: | https://doi.org/10.1038/npjgenmed.2016.8 |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10071926 |
Archive Staff Only
 |
View Item |
