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Systematic candidate gene investigations in the SPA2 locus (9q32) show an association between TNFSF8 and susceptibility to spondylarthritis

Elena Zinovieva, Amir Kadi, Franck Letourneur, Nicolas Cagnard, Brigitte Izac, Agathe Vigier, Roula Said-Nahal, Dirk Elewaut UGent, Kurt de Vlam and Fernando Pimentel-Santos, et al. (2011) ARTHRITIS AND RHEUMATISM. 63(7). p.1853-1859
abstract
Objective. Our group previously identified a new susceptibility region linked to spondylarthritis (SpA) on chromosome 9q31-34. Fine mapping of this SPA2 locus allowed us to refine the peak of linkage to a 1.3-Mb interval. The objective of this study was to resequence most positional candidate genes lying in that region, to identify polymorphisms, and to examine their association with SpA. Methods. Variants screening was performed in 30 independent patients with SpA from families with a high linkage score to the SPA2 locus and 30 control subjects. The coding regions, intron-exon boundaries, and 5'- and 3'-flanking regions of ZNF618, A1L4R1_HUMAN (AF495724), AMBP, KIF12, ORM1, ORM2, C9ORF91, ENSESTG000000230601, and TNFSF8 were resequenced to identify polymorphisms. Selected variants were genotyped in an extended French cohort (442 patients and 268 control subjects overall). Replication was performed in a combined Belgian and Portuguese cohort (433 patients and 299 control subjects). Results. Variants screening allowed us to identify 98 polymorphisms, 5 of which were selected for further studies, based on statistical significance. The rare intronic single-nucleotide polymorphism (SNP) rs3181357, located in TNFSF8, was significantly associated with SpA in the French and the replication cohorts (odds ratio [OR] 2.03, P = 0.009 and OR 2.26, P = 0.0014, respectively) and in the pooled analysis (OR 2.14, P = 0.0001). Conclusion. Positional candidate gene screening in the SPA2 locus allowed us to identify and replicate an association between a rare SNP located in TNFSF8 and SpA. This new finding appears to be independent of an association with a haplotype near TNFSF15, which we recently reported.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
ANKYLOSING-SPONDYLITIS, DISEASE SUSCEPTIBILITY, MULTIPLEX FAMILIES, CD30 LIGAND/CD30, SPONDYLOARTHROPATHY, CRITERIA, CLASSIFICATION, LINKAGE, CELLS, MICE
journal title
ARTHRITIS AND RHEUMATISM
Arthritis Rheum.
volume
63
issue
7
pages
1853 - 1859
Web of Science type
Article
Web of Science id
000292809700013
JCR category
RHEUMATOLOGY
JCR impact factor
7.866 (2011)
JCR rank
3/29 (2011)
JCR quartile
1 (2011)
ISSN
0004-3591
DOI
10.1002/art.30377
project
Ghent researchers on unfolded proteins in inflammatory disease (GROUP-ID)
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1975784
handle
http://hdl.handle.net/1854/LU-1975784
date created
2011-12-29 14:29:55
date last changed
2013-02-27 09:09:23
@article{1975784,
  abstract     = {Objective. Our group previously identified a new susceptibility region linked to spondylarthritis (SpA) on chromosome 9q31-34. Fine mapping of this SPA2 locus allowed us to refine the peak of linkage to a 1.3-Mb interval. The objective of this study was to resequence most positional candidate genes lying in that region, to identify polymorphisms, and to examine their association with SpA. 
Methods. Variants screening was performed in 30 independent patients with SpA from families with a high linkage score to the SPA2 locus and 30 control subjects. The coding regions, intron-exon boundaries, and 5'- and 3'-flanking regions of ZNF618, A1L4R1\_HUMAN (AF495724), AMBP, KIF12, ORM1, ORM2, C9ORF91, ENSESTG000000230601, and TNFSF8 were resequenced to identify polymorphisms. Selected variants were genotyped in an extended French cohort (442 patients and 268 control subjects overall). Replication was performed in a combined Belgian and Portuguese cohort (433 patients and 299 control subjects). 
Results. Variants screening allowed us to identify 98 polymorphisms, 5 of which were selected for further studies, based on statistical significance. The rare intronic single-nucleotide polymorphism (SNP) rs3181357, located in TNFSF8, was significantly associated with SpA in the French and the replication cohorts (odds ratio [OR] 2.03, P = 0.009 and OR 2.26, P = 0.0014, respectively) and in the pooled analysis (OR 2.14, P = 0.0001). 
Conclusion. Positional candidate gene screening in the SPA2 locus allowed us to identify and replicate an association between a rare SNP located in TNFSF8 and SpA. This new finding appears to be independent of an association with a haplotype near TNFSF15, which we recently reported.},
  author       = {Zinovieva, Elena and Kadi, Amir and Letourneur, Franck and Cagnard, Nicolas and Izac, Brigitte and Vigier, Agathe and Said-Nahal, Roula and Elewaut, Dirk and de Vlam, Kurt and Pimentel-Santos, Fernando and Chiocchia, Gilles and Breban, Maxime},
  issn         = {0004-3591},
  journal      = {ARTHRITIS AND RHEUMATISM},
  keyword      = {ANKYLOSING-SPONDYLITIS,DISEASE SUSCEPTIBILITY,MULTIPLEX FAMILIES,CD30 LIGAND/CD30,SPONDYLOARTHROPATHY,CRITERIA,CLASSIFICATION,LINKAGE,CELLS,MICE},
  language     = {eng},
  number       = {7},
  pages        = {1853--1859},
  title        = {Systematic candidate gene investigations in the SPA2 locus (9q32) show an association between TNFSF8 and susceptibility to spondylarthritis},
  url          = {http://dx.doi.org/10.1002/art.30377},
  volume       = {63},
  year         = {2011},
}

Chicago
Zinovieva, Elena, Amir Kadi, Franck Letourneur, Nicolas Cagnard, Brigitte Izac, Agathe Vigier, Roula Said-Nahal, et al. 2011. “Systematic Candidate Gene Investigations in the SPA2 Locus (9q32) Show an Association Between TNFSF8 and Susceptibility to Spondylarthritis.” Arthritis and Rheumatism 63 (7): 1853–1859.
APA
Zinovieva, E., Kadi, A., Letourneur, F., Cagnard, N., Izac, B., Vigier, A., Said-Nahal, R., et al. (2011). Systematic candidate gene investigations in the SPA2 locus (9q32) show an association between TNFSF8 and susceptibility to spondylarthritis. ARTHRITIS AND RHEUMATISM, 63(7), 1853–1859.
Vancouver
1.
Zinovieva E, Kadi A, Letourneur F, Cagnard N, Izac B, Vigier A, et al. Systematic candidate gene investigations in the SPA2 locus (9q32) show an association between TNFSF8 and susceptibility to spondylarthritis. ARTHRITIS AND RHEUMATISM. 2011;63(7):1853–9.
MLA
Zinovieva, Elena, Amir Kadi, Franck Letourneur, et al. “Systematic Candidate Gene Investigations in the SPA2 Locus (9q32) Show an Association Between TNFSF8 and Susceptibility to Spondylarthritis.” ARTHRITIS AND RHEUMATISM 63.7 (2011): 1853–1859. Print.