title: Environmental factors associated with familial or non-familial forms of Paget's disease of bone.
abstract: OBJECTIVE
  The most frequent mutation linked to Paget's disease of bone (PDB), p.Pro392Leu within SQSTM1 gene, leads to phenotypic characteristics of PDB, but this mutation is seemingly insufficient to result in complete pagetic osteoclast phenotype, suggesting that possible environmental factors play a role in PDB pathogenesis. We performed an exploratory study to identify environmental factors potentially associated with familial or non-familial form of PDB in the French-Canadian population.
  
  
  METHODS
  We investigated environmental factors through a questionnaire in 176 pagetic patients, including 86 patients with a familial form, and 147 healthy controls. All participants lived in the same geographic area, within a 120km radius of Quebec City. Associations between environmental factors and familial and non-familial forms of PDB were searched.
  
  
  RESULTS
  In the multivariate model adjusted for intra-familial correlation, PDB was associated with wood fired heating in childhood and/or adolescence (OR=2.10; 95% CI 1.13-3.90, P=0.02). In the multivariate model without considering correlation for family relatedness, familial form of PDB was associated with residency near a mine (OR=11.70; 95% CI 2.92-46.80, P<0.01) and hunting (OR=2.92; 95% CI 1.14-7.47, P=0.03). Wood fired heating during childhood and/or adolescence (P=0.02) was associated with both familial and non-familial forms.
  
  
  CONCLUSIONS
  In conclusion, PDB was significantly associated with wood fired heating in childhood and/or adolescence, regardless of the form of PDB, familial or not.
authors.affiliation: Department of Medicine, Université Laval, Quebec City, G1V 0A6 Quebec, Canada; Department of Rheumatology, CHU de Québec, Université Laval, Quebec City, G1V 4G2 Quebec, Canada.
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Audet
authors.affiliation: Department of Medicine, Université Laval, Quebec City, G1V 0A6 Quebec, Canada; Institut national de santé publique du Québec, Quebec City, G1V 5B3 Quebec, Canada.
authors.forename: Sonia
authors.initials: S
authors.lastname: Jean
authors.affiliation: Institut national de santé publique du Québec, Quebec City, G1V 5B3 Quebec, Canada; CHU de Québec, Université Laval Research Centre, Quebec City, Quebec G1V 4G2 Quebec, Canada.
authors.forename: Claudia
authors.initials: C
authors.lastname: Beaudoin
authors.affiliation: Department of Medicine, Université Laval, Quebec City, G1V 0A6 Quebec, Canada; CHU de Québec, Université Laval Research Centre, Quebec City, Quebec G1V 4G2 Quebec, Canada.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Guay-Bélanger
authors.affiliation: CHU de Québec, Université Laval Research Centre, Quebec City, Quebec G1V 4G2 Quebec, Canada.
authors.forename: Jeannette
authors.initials: J
authors.lastname: Dumont
authors.affiliation: Department of Medicine, Université Laval, Quebec City, G1V 0A6 Quebec, Canada; Department of Rheumatology, CHU de Québec, Université Laval, Quebec City, G1V 4G2 Quebec, Canada; CHU de Québec, Université Laval Research Centre, Quebec City, Quebec G1V 4G2 Quebec, Canada.
authors.forename: Jacques P
authors.initials: JP
authors.lastname: Brown
authors.affiliation: Department of Medicine, Université Laval, Quebec City, G1V 0A6 Quebec, Canada; Department of Rheumatology, CHU de Québec, Université Laval, Quebec City, G1V 4G2 Quebec, Canada; CHU de Québec, Université Laval Research Centre, Quebec City, Quebec G1V 4G2 Quebec, Canada. Electronic address: laetitia.michou@crchudequebec.ulaval.ca.
authors.forename: Laëtitia
authors.initials: L
authors.lastname: Michou
mesh_terms: D000328:Adult; D017677:Age Distribution; D000368:Aged; D002170:Canada / Q000453:epidemiology; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D004777:Environment; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D010001:Osteitis Deformans / Q000453:epidemiology* / Q000209:etiology* / Q000235:genetics; D012016:Reference Values; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Environmental factors; Familial form; French-Canadian; Paget's disease of bone; Wood fired heating