title: Association analysis of the COL1A1 polymorphism with bone mineral density and prevalent fractures in Polish postmenopausal women with osteoporosis.
abstract: BACKGROUND
  Polymorphism in the promoter region of collagen type 1α (COL1A1) +1245G/T (Sp1, rs1800012) was in some studies shown to be relevant for bone mineral density (BMD) and low-energy fracture prediction. The aim of the study was to confirm this finding in a group of postmenopausal women diagnosed with osteoporosis.
  
  
  METHODS
  We investigated 311 Caucasian women (mean age: 65.2 ±9.39 years) either after low-energy fractures (regardless of the location) or meeting World Health Organization (WHO) criteria for osteoporosis. All patients underwent clinical examination in order to exclude secondary osteoporosis; hip and lumbar spine DEXA was performed (Lunar). The three genotypes of Sp1 polymorphism were determined by RFLP (restriction fragment length polymorphism).
  
  
  RESULTS
  Distribution of COL1A1 genotypes (SS/Ss/ss) agreed with Hardy-Weinberg equilibrium. No relation between COL1A1 genotypes and hip/L1-L4 BMD was found. Fractures were reported in 26.3% of women. Prevalence of low-energy fractures, regardless of the type, was 50.0% in ss genotype carriers, 26.4% in SS homozygotes and 23.7% in Ss heterozygotes. There was no statistically significant recessive or dominant effect of any Sp1 genotype on fracture prevalence (p = 0.613).
  
  
  CONCLUSIONS
  We failed to observe that COL1A1 Sp 1 genotypes contribute to BMD determination or are associated with prevalent low-energy fractures in a Polish cohort of postmenopausal osteoporotic women.
authors.affiliation: Department of Family Medicine, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Dytfeld
authors.affiliation: Department of Family Medicine, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Michalina
authors.initials: M
authors.lastname: Marcinkowska
authors.affiliation: Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poznan, Poland.
authors.forename: Natalia
authors.initials: N
authors.lastname: Drwęska-Matelska
authors.affiliation: Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Michał
authors.initials: M
authors.lastname: Michalak
authors.affiliation: Department of Family Medicine, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Wanda
authors.initials: W
authors.lastname: Horst-Sikorska
authors.affiliation: Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poznan, Poland; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
authors.forename: Ryszard
authors.initials: R
authors.lastname: Słomski
keywords: COL1A1 polymorphism; bone mineral density; fractures; postmenopausal osteoporosis