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Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

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Chung, Pui Yan Jenny Beyens, Greet Riches, Philip L. Van Wesenbeeck, Liesbeth De Freitas, Fenna Devogelaer, Jean-Pierre [UCL] Van Hul, Wim

RANK (receptor activator of nuclear factor-κB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)-like diseases (ie, familial expansile osteolysis, expansile skeletal hyperphosphatasia, and early-onset PDB) and an osteoclast-poor form of osteopetrosis. However, no TNFRSF11A mutations have been found in classic PDB, neither in familial nor in isolated cases. To investigate the possible relationship between TNFRSF11A polymorphisms and sporadic PDB, we conducted an association study including 32 single-nucleotide polymorphisms (SNPs) in 196 Belgian sporadic PDB patients and 212 control individuals. Thirteen SNPs and 3 multimarker tests (MMTs) turned out to have a p value of between.036 and 3.17a×a10-4, with the major effect coming from females. Moreover, 6 SNPs and 1 MMT withstood the Bonferroni correction (p<.002). Replication studies were performed for 2 nonsynonymous SNPs (rs35211496 and rs1805034) in a Dutch and a British cohort. Interestingly, both SNPs resulted in p values ranging from.013 to 8.38a×a10-5 in both populations. Meta-analysis over three populations resulted in p=.002 for rs35211496 and p=1.27a×a10-8 for rs1805034, again mainly coming from the female subgroups. In an attempt to identify the underlying causative SNP, we performed functional studies for the coding SNPs as well as resequencing efforts of a 31-kb region harboring a risk haplotype within the Belgian females. However, neither approach resulted in significant evidence for the causality of any of the tested genetic variants. Therefore, further studies are needed to identify the real cause of the increased risk to develop PDB shown to be present within TNFRSF11A. © 2010 American Society for Bone and Mineral Research.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2010
Language Anglais
Journal information "Journal of Bone and Mineral Research" - Vol. 25, no. 12, p. 2316-2329 (2010)
Peer reviewed yes
Publisher American Society for Bone and Mineral Research ((United States) Washington, DC)
issn 0884-0431
e-issn 1523-4681
Publication status Publié
Affiliations UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales
UCL - (SLuc) Service de rhumatologie
Links
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Bibliographic reference Chung, Pui Yan Jenny ; Beyens, Greet ; Riches, Philip L. ; Van Wesenbeeck, Liesbeth ; De Freitas, Fenna ; et. al. Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone. In: Journal of Bone and Mineral Research, Vol. 25, no. 12, p. 2316-2329 (2010)
Permanent URL http://hdl.handle.net/2078.1/163896