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NEW FUNCTIONAL MICROSATELLITE ASSOCIATED WITH OSTEOARTHRITIS SUSCEPTIBILITY

Vidal-Bralo, L.; Rodriguez-Fontela, C.; Calaza, M.; Oreiro, N.; Blanco, F. J.; Carr, A.; Odriozola, A.; Riancho, J.; Gomez-Reino, J. J.; Tsezou, A.; Loughlin, J.; Gonzalez, A.; arc, Ogen Consortium (2014)

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

Panoutsopoulou, K.; Southam, L.; Elliott, K. S.; Wrayner, N.; Zhai, G.; Beazley, C.; Thorleifsson, G.; Arden, N. K.; Carr, A.; Chapman, K.; Deloukas, P.; Doherty, M.; McCaskie, A.; Ollier, W. E. R.; Ralston, S. H.; Spector, T. D.; Valdes, A. M.; Wallis, G. A.; Wilkinson, J. M.; Arden, E.; Battley, K.; Blackburn, H.; Blanco, F. J.; Bumpstead, S.; Cupples, L. A.; Day-Williams, A. G.; Dixon, K.; Doherty, S. A.; Esko, T.; Evangelou, E.; Felson, D.; Gomez-Reino, J. J.; Gonzalez, A.; Gordon, A.; Gwilliam, R.; Halldorsson, B. V.; Hauksson, V. B.; Hofman, A.; Hunt, S. E.; Ioannidis, J. P. A.; Ingvarsson, T.; Jonsdottir, I.; Jonsson, H.; Keen, R.; Kerkhof, H. J. M.; Kloppenburg, M. G.; Koller, N.; Lakenberg, N.; Lane, N. E.; Lee, A. T.; Metspalu, A.; Meulenbelt, I.; Nevitt, M. C.; O'Neill, F.; Parimi, N.; Potter, S. C.; Rego-Perez, I.; Riancho, J. A.; Sherburn, K.; Slagboom, P. E.; Stefansson, K.; Styrkarsdottir, U.; Sumillera, M.; Swift, D.; Thorsteinsdottir, U.; Tsezou, A.; Uitterlinden, A. G.; van Meurs, J. B. J.; Watkins, B.; Wheeler, M.; Mitchell, S.; Zhu, Y.; Zmuda, J. M.; Zeggini, E.; Loughlin, J.; arc, Ogen Consortium (2011)

Objectives The genetic aetiology of osteoarthritis has not yet been elucidated. To enable a well-powered genome-wide association study (GWAS) for osteoarthritis, the authors have formed the arcOGEN Consortium, a UK-wide ...

Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis

Rodriguez-Lopez, J.; Mustafa, Z.; Pombo-Suarez, M.; Malizos, K. N.; Rego, I.; Blanco, F. J.; Tsezou, A.; Loughlin, J.; Gomez-Reino, J. J.; Gonzalez, A. (2008)

Objective. Given the recent characterization of ADAMTS-5 as the main aggrecanase of cartilage destruction in mouse models, we explored whether genetic variation and, in particular, putative damaging polymorphisms in the ...

Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations

Meulenbelt, I.; Chapman, K.; Dieguez-Gonzalez, R.; Shi, D.; Tsezou, A.; Dai, J.; Malizos, K. N.; Kloppenburg, M.; Carr, A.; Nakajima, M.; van der Breggen, R.; Lakenberg, N.; Gomez-Reino, J. J.; Jiang, Q.; Ikegawa, S.; Gonzalez, A.; Loughlin, J.; Slagboom, E. P. (2009)

Recently, through a genome wide association study in Japanese knee osteoarthritis (OA) cases, a previously unknown gene, DVWA, was identified. The non-synonymous single nucleotide polymorphism (SNP) rs7639618 was subsequently ...

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus

Dodd, A. W.; Rodriguez-Fontenla, C.; Calaza, M.; Carr, A.; Gomez-Reino, J. J.; Tsezou, A.; Reynard, L. N.; Gonzalez, A.; Loughlin, J. (2011)

Objective: The common single nucleotide polymorphism (SNP) rs143383 in the 5' untranslated region (5'UTR) of growth and differentiation factor 5 (GDF5) is strongly associated with osteoarthritis (OA) and influences GDF5 ...

Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes

Rodriguez-Lopez, J.; Pombo-Suarez, M.; Loughlin, J.; Tsezou, A.; Blanco, F. J.; Meulenbelt, I.; Slagboom, P. E.; Valdes, A. M.; Spector, T. D.; Gomez-Reino, J. J.; Gonzalez, A. (2009)

Objective: To investigate the effect in OA (Osteoarthritis) susceptibility of putative damaging changes in ADAM (A Disintegrin And Metalloprotease) and ADAMTS (ADAM with ThromboSpondin motif proteases. Methods: Non-synonymous ...

Large-Scale Analysis of Association Between GDF5 and FRZB Variants and Osteoarthritis of the Hip, Knee, and Hand

Evangelou, E.; Chapman, K.; Meulenbelt, I.; Karassa, F. B.; Loughlin, J.; Carr, A.; Doherty, M.; Doherty, S.; Gomez-Reino, J. J.; Gonzalez, A.; Halldorsson, B. V.; Hauksson, V. B.; Hofman, A.; Hart, D. J.; Ikegawa, S.; Ingvarsson, T.; Jiang, Q.; Jonsdottir, I.; Jonsson, H.; Kerkhof, H. J. M.; Kloppenburg, M.; Lane, N. E.; Li, J.; Lories, R. J.; van Meurs, J. B. J.; Nakki, A.; Nevitt, M. C.; Rodriguez-Lopez, J.; Shi, D. Q.; Slagboom, E.; Stefansson, K.; Tsezou, A.; Wallis, G. A.; Watson, C. M.; Spector, T. D.; Uitterlinden, A. G.; Valdes, A. M.; Ioannidis, J. P. A. (2009)

Objective. GDF5 and FRZB have been proposed as genetic loci conferring susceptibility to osteoarthritis (OA); however, the results of several studies investigating the association of OA with the rs143383 polymorphism of ...

DEEP SEQUENCING OF GDF5 IN OVER 1900 OSTEOARTHRITIS CASES AND CONTROLS REVEALS NOVEL AND POTENTIALLY FUNCTIONAL RARE VARIANTS IN THE PROTEIN CODING AND PROMOTER REGIONS OF THE GENE

Dodd, A. W.; Rodriguez-Fontenla, C.; Calaza, M.; Carr, A.; Gomez-Reino, J. J.; Tsezou, A.; Gonzalez, A.; Loughlin, J. (2010)

Testing the druggable endothelial differentiation gene 2 knee osteoarthritis genetic factor for replication in a wide range of sample collections

Dieguez-Gonzalez, R.; Calaza, M.; Shi, D.; Meulenbelt, I.; Loughlin, J.; Tsezou, A.; Dai, J.; Malizos, K. N.; Slagboom, E. P.; Kloppenburg, M.; Chapman, K.; Jiang, Q.; Kremer, D.; Gomez-Reino, J. J.; Nakajima, N.; Ikegawa, S.; Gonzalez, A. (2009)

Objectives: To replicate a previously reported association with osteoarthritis (OA) of the promoter single nucleotide polymorphism (SNP) rs10980705 in the endothelial differentiation gene 2 (EDG2). Methods: Five collections ...

Association of a BMP5 microsatellite with knee osteoarthritis: case-control study

Rodriguez-Fontenla, C.; Carr, A.; Gomez-Reino, J. J.; Tsezou, A.; Loughlin, J.; Gonzalez, A. (2012)

Introduction: We aimed to explore the involvement of a multiallelic functional polymorphism in knee osteoarthritis (OA) susceptibility as a prototype of possible genetic factors escaping GWAS detection. Methods: OA patients ...