title: CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.
abstract: BACKGROUND
  Osteoporosis has a multifactorial pathogenesis characterized by a combination of low bone mass and increased fragility. In our study, we focused on the effects of polymorphisms in CER1 and DKK1 genes, recently reported as important susceptibility genes for osteoporosis, on bone mineral density (BMD) and bone markers in osteoporotic women. Our objective was to evaluate the effect of CER1 and DKK1 variations in 607 postmenopausal women. The entire DKK1 gene sequence and five selected CER1 SNPs were amplified and resequenced to assess whether there is a correlation between these genes and BMD, early menopause, and bone turnover markers in osteoporotic patients.
  
  
  RESULTS
  Osteoporotic women seem to suffer menopause 2 years earlier than the control group. The entire DKK1 gene sequence analysis revealed six variations. There was no correlation between the six DKK1 variations and osteoporosis, in contrast to the five common CER1 variations that were significantly associated with BMD. Additionally, osteoporotic patients with rs3747532 and rs7022304 CER1 variations had significantly higher serum levels of parathyroid hormone and calcitonin and lower serum levels of osteocalcin and IGF-1.
  
  
  CONCLUSIONS
  No significant association between the studied DKK1 variations and osteoporosis was found, while CER1 variations seem to play a significant role in the determination of osteoporosis and a potential predictive role, combined with bone markers, in postmenopausal osteoporotic women.
authors.forename: Theodora
authors.initials: T
authors.lastname: Koromila
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Georgoulias
authors.forename: Zoe
authors.initials: Z
authors.lastname: Dailiana
authors.forename: Evangelia E
authors.initials: EE
authors.lastname: Ntzani
authors.forename: Stavroula
authors.initials: S
authors.lastname: Samara
authors.forename: Chris
authors.initials: C
authors.lastname: Chassanidis
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Aleporou-Marinou
authors.affiliation: Laboratory of Human Genetics, Department of Genetics & Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens 15701, Greece. pankollia@biol.uoa.gr.
authors.forename: Panagoula
authors.initials: P
authors.lastname: Kollia
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015519:Bone Density / Q000235:genetics*; D002116:Calcitonin / Q000097:blood; D016022:Case-Control Studies; D016207:Cytokines / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D014644:Genetic Variation; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D016015:Logistic Models; D008875:Middle Aged; D015675:Osteocalcin / Q000097:blood; D010024:Osteoporosis / Q000235:genetics*; D010281:Parathyroid Hormone / Q000097:blood; D011110:Polymorphism, Genetic; D017698:Postmenopause
chemical_list: C514249:CER1 protein, human; D016207:Cytokines; C501126:DKK1 protein, human; C583557:IGF1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D010281:Parathyroid Hormone; D015675:Osteocalcin; D007334:Insulin-Like Growth Factor I; D002116:Calcitonin