title: Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta.
abstract: BACKGROUND
  There are no specific biochemical bone markers available for osteogenesis imperfecta (OI), and the role of sclerostin as a key regulator of bone formation in OI is unknown.
  
  
  OBJECTIVE
  We aimed to evaluate the role of sclerostin and its association with bone turnover markers as well as body composition parameters in adult patients with different types of OI.
  
  
  METHODS
  This was a case-control study in 27 adult patients and 50 healthy age- and gender-matched controls.
  
  
  METHODS
  Serum sclerostin levels and bone turnover markers including serum osteocalcin, amino terminal propeptide of type I procollagen, and CrossLaps as well as body composition parameters were determined in mild OI stage I (OI-I) and moderate-severe OI stages III-IV (OI-III-IV), according to Sillence classification. Data were compared with healthy controls.
  
  
  RESULTS
  Sclerostin levels were significantly lower in OI-I (19.9 ± 10.9 pmol/L; P < .001) and OI-III-IV (13.3 ± 10.0 pmol/L; P < .001) compared with healthy adults (45.3 ± 14.9 pmol/L), even after adjustment for age, sex, bone mineral content, and body mass index. CrossLaps and PTH were significantly lower in OI-I (0.197 ± 0.15 ng/L; P = .007 and 33.7 ± 19.1 pg/L; P = .033, respectively) and OI-III-IV (0.221 ± 0.18 ng/L; P = .039, and 27.9 ± 14.7 pg/L; P = .001, respectively) than in healthy controls (0.322 ± 0.15 ng/L and 45.0 ± 16.6 pg/L). Amino-terminal propeptide of type I procollagen was below the reference range for OI-I and OI-III-IV. Patients with OI were shorter and lighter and had a decreased bone mineral content (P < .001) but similar fat distribution and lean body mass, compared with controls. Serum sclerostin levels were not related to any bone marker except osteocalcin, the number of prevalent fractures, or body composition readings.
  
  
  CONCLUSIONS
  Decreased sclerostin levels in OI might reflect a down-regulation or negative feedback mechanism to prevent further bone loss.
authors.affiliation: Medical Department II (R.K., C.M., J.H., H.R.), St Vincent Hospital, The VINFORCE Study Group, Academic Teaching Hospital of Medical University of Vienna, 1060 Vienna, Austria; Department of Pathophysiology and Allergy Research (P.P.), Center for Pathophysiology, Infectiology, and Immunology, Medical University of Vienna, 1090 Vienna, Austria; Central Laboratory (S.D., S.K.) St. Vincent Group, 1060 Vienna, Austria; and Department of Internal Medicine (A.F.-P., K.A.), Division of Endocrinology and Metabolism, Medical University of Graz, 8036 Graz, Austria.
authors.forename: Roland
authors.initials: R
authors.lastname: Kocijan
authors.forename: Christian
authors.initials: C
authors.lastname: Muschitz
authors.forename: Astrid
authors.initials: A
authors.lastname: Fahrleitner-Pammer
authors.forename: Karin
authors.initials: K
authors.lastname: Amrein
authors.forename: Peter
authors.initials: P
authors.lastname: Pietschmann
authors.forename: Judith
authors.initials: J
authors.lastname: Haschka
authors.forename: Sebastian
authors.initials: S
authors.lastname: Dinu
authors.forename: Stylianos
authors.initials: S
authors.lastname: Kapiotis
authors.forename: Heinrich
authors.initials: H
authors.lastname: Resch
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D001823:Body Composition; D015992:Body Mass Index; D019485:Bone Morphogenetic Proteins / Q000097:blood*; D016022:Case-Control Studies; D005260:Female; D050723:Fractures, Bone / Q000097:blood*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D015675:Osteocalcin / Q000097:blood; D010013:Osteogenesis Imperfecta / Q000097:blood* / Q000175:diagnosis*; D011347:Procollagen / Q000097:blood
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D019485:Bone Morphogenetic Proteins; D005819:Genetic Markers; D011347:Procollagen; C422903:SOST protein, human; D015675:Osteocalcin