title: VAV3 Gene Polymorphism Is Associated with Paget's Disease of Bone.
abstract: OBJECTIVE
  Paget's disease of bone (PDB) is a focal bone disorder affecting the skeleton segmentally. The disease affects osteoclasts which increase in size, number, and activity. One of the etiopathogenic hypotheses is that the disease is genetic. It has been reported that Rho GEF Vav3 is an essential factor in the regulation of osteoclast function, and alteration of the VAV3 gene could influence the development of the disease. The aim of our study was to perform an association study between variants of the VAV3 gene and the risk of developing Paget's disease of bone.
  
  
  METHODS
  The genotypic and allelic distribution of the VAV3 c.892A>T/p.T298S (rs7528153) polymorphism was compared between a cohort of 238 Spanish subjects with PDB and a cohort of 253 healthy subjects.
  
  
  RESULTS
  Our results indicated that individuals carrying the VAV3 rs7528153 TT genotype were at a significantly increased risk of developing PDB (p < 0.001, odds ratio [OR] = 3.15, 95% confidence interval [95% CI] = 1.77-5.61).
  
  
  CONCLUSIONS
  These results suggest that inheriting the VAV3 rs7528153 polymorphism is a likely susceptibility factor for developing Paget's disease of bone.
authors.affiliation: 1 Unidad de Medicina Molecular, Departamento de Medicina, Universidad de Salamanca , Salamanca, Spain .|2 Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca-USAL-CSIC , Salamanca, Spain .
authors.forename: Ricardo
authors.initials: R
authors.lastname: Usategui-Martín
authors.affiliation: 2 Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca-USAL-CSIC , Salamanca, Spain .|3 Servicio de Reumatología, Hospital Universitario de Salamanca , Salamanca, Spain .
authors.forename: Ismael
authors.initials: I
authors.lastname: Calero-Paniagua
authors.affiliation: 2 Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca-USAL-CSIC , Salamanca, Spain .|4 Servicio de Medicina Interna, Hospital Universitario de Salamanca , Salamanca, Spain .
authors.forename: Judith
authors.initials: J
authors.lastname: García-Aparicio
authors.affiliation: 4 Servicio de Medicina Interna, Hospital Universitario de Salamanca , Salamanca, Spain .
authors.forename: Luis
authors.initials: L
authors.lastname: Corral-Gudino
authors.affiliation: 2 Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca-USAL-CSIC , Salamanca, Spain .|3 Servicio de Reumatología, Hospital Universitario de Salamanca , Salamanca, Spain .
authors.forename: Javier
authors.initials: J
authors.lastname: Del Pino Montes
authors.affiliation: 1 Unidad de Medicina Molecular, Departamento de Medicina, Universidad de Salamanca , Salamanca, Spain .|2 Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca-USAL-CSIC , Salamanca, Spain .|5 Instituto de Biología Molecular y Celular del Cáncer (IBMCC), Universidad de Salamanca-CSIC , Salamanca, Spain .
authors.forename: Rogelio
authors.initials: R
authors.lastname: González Sarmiento
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010001:Osteitis Deformans / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010010:Osteoclasts / Q000378:metabolism / Q000473:pathology; D053244:Osteoprotegerin / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D051567:Proto-Oncogene Proteins c-vav / Q000235:genetics* / Q000378:metabolism
chemical_list: D053244:Osteoprotegerin; D051567:Proto-Oncogene Proteins c-vav; C496621:VAV3 protein, human