PMID- 25169729
OWN - NLM
STAT- MEDLINE
DCOM- 20141208
LR  - 20220129
IS  - 1468-2060 (Electronic)
IS  - 0003-4967 (Print)
IS  - 0003-4967 (Linking)
VI  - 73
IP  - 11
DP  - 2014 Nov
TI  - Ankylosing spondylitis is associated with the anthrax toxin receptor 2 gene 
      (ANTXR2).
PG  - 2054-8
LID - 10.1136/annrheumdis-2014-205643 [doi]
AB  - OBJECTIVES: ANTXR2 variants have been associated with ankylosing spondylitis (AS) 
      in two previous genome-wide association studies (GWAS) (p approximately 9x10(-8)). However, a 
      genome-wide significant association (p<5x10(-8)) was not observed. We conducted a 
      more comprehensive analysis of ANTXR2 in an independent UK sample to confirm and 
      refine this association. METHODS: A replication study was carried out with 2978 
      cases and 8365 controls. Then, these were combined with non-overlapping samples 
      from the two previous GWAS in a meta-analysis. Human leukocyte antigen (HLA)-B27 
      stratification was also performed to test for ANTXR2-HLA-B27 interaction. 
      RESULTS: Out of nine single nucleotide polymorphisms (SNP) in the study, five 
      SNPs were nominally associated (p<0.05) with AS in the replication dataset. In 
      the meta-analysis, eight SNPs showed evidence of association, the strongest being 
      with rs12504282 (OR=0.88, p=6.7x10(-9)). Seven of these SNPs showed evidence for 
      association in the HLA-B27-positive subgroup, but none was associated with 
      HLA-B27-negative AS. However, no statistically significant interaction was 
      detected between HLA-B27 and ANTXR2 variants. CONCLUSIONS: ANTXR2 variants are 
      clearly associated with AS. The top SNPs from two previous GWAS (rs4333130 and 
      rs4389526) and this study (rs12504282) are in strong linkage disequilibrium 
      (r(2)>/=0.76). All are located near a putative regulatory region. Further studies 
      are required to clarify the role played by these ANTXR2 variants in AS.
CI  - Published by the BMJ Publishing Group Limited. For permission to use (where not 
      already granted under a licence) please go to 
      http://group.bmj.com/group/rights-licensing/permissions.
FAU - Karaderi, T
AU  - Karaderi T
AD  - National Institute for Health Research Oxford Comprehensive Biomedical Research 
      Centre, University of Oxford, Oxford, UK.
FAU - Keidel, S M
AU  - Keidel SM
AD  - National Institute for Health Research Oxford Comprehensive Biomedical Research 
      Centre, University of Oxford, Oxford, UK.
FAU - Pointon, J J
AU  - Pointon JJ
AD  - National Institute for Health Research Oxford Comprehensive Biomedical Research 
      Centre, University of Oxford, Oxford, UK.
FAU - Appleton, L H
AU  - Appleton LH
AD  - National Institute for Health Research Oxford Musculoskeletal Biomedical Research 
      Unit, University of Oxford, Oxford, UK.
FAU - Brown, M A
AU  - Brown MA
AD  - University of Queensland Diamantina Institute, Translational Research Institute, 
      Brisbane, Queensland, Australia.
FAU - Evans, D M
AU  - Evans DM
AD  - University of Queensland Diamantina Institute, Translational Research Institute, 
      Brisbane, Queensland, Australia MRC Integrative Epidemiology Unit, University of 
      Bristol, Bristol, UK.
FAU - Wordsworth, B P
AU  - Wordsworth BP
AD  - National Institute for Health Research Oxford Comprehensive Biomedical Research 
      Centre, University of Oxford, Oxford, UK National Institute for Health Research 
      Oxford Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, 
      UK.
LA  - eng
GR  - 19356/VAC_/Versus Arthritis/United Kingdom
GR  - 102215/WT_/Wellcome Trust/United Kingdom
GR  - MC_PC_15018/MRC_/Medical Research Council/United Kingdom
GR  - 19356/ARC_/Arthritis Research UK/United Kingdom
GR  - G9815508/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Meta-Analysis
DEP - 20140828
PL  - England
TA  - Ann Rheum Dis
JT  - Annals of the rheumatic diseases
JID - 0372355
RN  - 0 (ANTXR2 protein, human)
RN  - 0 (HLA-B27 Antigen)
RN  - 0 (Receptors, Peptide)
SB  - IM
MH  - Case-Control Studies
MH  - Child
MH  - Genetic Predisposition to Disease
MH  - Genome-Wide Association Study
MH  - HLA-B27 Antigen/analysis
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, Peptide/*genetics
MH  - Spondylitis, Ankylosing/*genetics
PMC - PMC4215346
OTO - NOTNLM
OT  - Ankylosing Spondylitis
OT  - Epidemiology
OT  - Gene Polymorphism
OT  - Inflammation
OT  - Spondyloarthritis
EDAT- 2014/08/30 06:00
MHDA- 2014/12/15 06:00
PMCR- 2014/10/31
CRDT- 2014/08/30 06:00
PHST- 2014/08/30 06:00 [entrez]
PHST- 2014/08/30 06:00 [pubmed]
PHST- 2014/12/15 06:00 [medline]
PHST- 2014/10/31 00:00 [pmc-release]
AID - annrheumdis-2014-205643 [pii]
AID - 10.1136/annrheumdis-2014-205643 [doi]
PST - ppublish
SO  - Ann Rheum Dis. 2014 Nov;73(11):2054-8. doi: 10.1136/annrheumdis-2014-205643. Epub 
      2014 Aug 28.