title: Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women.
abstract: OBJECTIVE
  The goal of this study was to evaluate the frequency of Sp1 +1245G>T (rs 1800012) and -199 7G>T (rs 1107946) COL1A1 gene polymorphisms in postmenopausal women with osteoporosis and osteopenia as well as assessing their relations with the clinical parameters and parameters of bone turnover.
  
  
  METHODS
  The study included 538 (236 postmenopausal and 302 healthy reproductive) Polish women. The postmenopausal group included women with osteoporosis (n = 90), osteopenia (n = 90), as well as healthy individuals (n = 56). All women of reproductive age were healthy BMD was marked in the L2-L4 lumbar region of the spine using dual energy X-ray absorptiometry (DXA). Genomic DNA was isolated from peripheral blood, the genotype frequency of investigated polymorphisms was determined by PCR-RFLP technique.
  
  
  RESULTS
  The frequency of Sp1 +1245G>T and -1997G>T polymorphisms of COL1A1 gene showed no statistically significant differences between group with osteoporosis, osteopenia and correct T-score and women of reproductive age. In postmenopausal women it was found that osteopenia and osteoporosis were correlated with age, birth weight, age of last menses occurrence, height, body weight and BMI value. Clinical parameters in all groups of women did not show any statistically significant correlation with frequency of Sp1 +1245G>T and -1997G>T COL1A1 polymorphisms.
  
  
  CONCLUSIONS
  An evaluation of Sp1 +1245G>T (rs1800012) and -1997G>T(rs 1107946) COL1A1 polymorphisms showed any influence of these genetic variants on osteoporosis development in Polish postmenopausal women. The presented correlation between osteoporosis and age, birth weight, age of last menses occurrence, height, body weight and BMI value confirms the important role of environmental factors in disease etiology.
authors.forename: Marian
authors.initials: M
authors.lastname: Majchrzycki
authors.forename: Joanna
authors.initials: J
authors.lastname: Bartkowiak-Wieczorek
authors.forename: Hubert
authors.initials: H
authors.lastname: Wolski
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Drews
authors.forename: Anna
authors.initials: A
authors.lastname: Bogacz
authors.forename: Bogusław
authors.initials: B
authors.lastname: Czerny
authors.forename: Edyta
authors.initials: E
authors.lastname: Zagrodnik-Ułan
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Seremak-Mrozikiewicz
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D015519:Bone Density / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000503:physiopathology*; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype; D011044:Poland; D011110:Polymorphism, Genetic; D017698:Postmenopause / Q000208:ethnology / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain