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Osteocalcin gene polymorphisms influence concentration of serum osteocalcin and enhance fracture identification.

McGuigan, Fiona LU ; Kumar, Jitender LU ; Ivaska, Kaisa LU ; Obrant, Karl LU ; Gerdhem, Paul LU and Åkesson, Kristina LU (2010) In Journal of Bone and Mineral Research Apr 7. p.1392-1399
Abstract
Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between bone and energy metabolism, hence its potential importance as an osteoporosis candidate gene. In this study, we included a total of 996 women (all aged 75 years) from the OPRA cohort. We sequenced the osteocalcin gene along with flanking region to search for novel coding polymorphisms. We also analyzed four polymorphisms selected from within and... (More)
Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between bone and energy metabolism, hence its potential importance as an osteoporosis candidate gene. In this study, we included a total of 996 women (all aged 75 years) from the OPRA cohort. We sequenced the osteocalcin gene along with flanking region to search for novel coding polymorphisms. We also analyzed four polymorphisms selected from within and flanking regions of the osteocalcin gene to study their association with serum total osteocalcin levels (S-TotalOC), total body (TB) bone mineral density (BMD), fracture, TB fat mass and BMI. The promoter polymorphism rs1800247 was significantly associated with S-TotalOC (p = 0.012) after controlling for BMI and TB BMD. The polymorphism rs1543297 was significantly associated with prospectively occurring fractures (p = 0.008). In a model taking into account rs1543297 and rs1800247 along with TB BMD, BMI, smoking and S-TotalOC, the polymorphisms together were able to identify an additional 6% of women who sustained a fracture (p = 0.02). We found no association between the polymorphisms and TB BMD, BMI or TB fat mass. In conclusion, polymorphisms in and around the osteocalcin locus are significantly associated with S-TotalOC and fracture. Genotyping at the osteocalcin locus could add valuable information in the identification of women at risk of osteoporosis. (c) 2010 American Society for Bone and Mineral Research. (Less)
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type
Contribution to journal
publication status
published
subject
in
Journal of Bone and Mineral Research
volume
Apr 7
pages
1392 - 1399
publisher
AMBMR
external identifiers
  • wos:000279441300020
  • pmid:20200947
  • scopus:77953481109
ISSN
1523-4681
DOI
10.1002/jbmr.32
language
English
LU publication?
yes
id
a1e14871-1190-4463-bfd7-8cd3fc252146 (old id 1582564)
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http://www.ncbi.nlm.nih.gov/pubmed/20200947?dopt=Abstract
date added to LUP
2010-04-07 14:10:19
date last changed
2018-05-29 09:19:37
@article{a1e14871-1190-4463-bfd7-8cd3fc252146,
  abstract     = {Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between bone and energy metabolism, hence its potential importance as an osteoporosis candidate gene. In this study, we included a total of 996 women (all aged 75 years) from the OPRA cohort. We sequenced the osteocalcin gene along with flanking region to search for novel coding polymorphisms. We also analyzed four polymorphisms selected from within and flanking regions of the osteocalcin gene to study their association with serum total osteocalcin levels (S-TotalOC), total body (TB) bone mineral density (BMD), fracture, TB fat mass and BMI. The promoter polymorphism rs1800247 was significantly associated with S-TotalOC (p = 0.012) after controlling for BMI and TB BMD. The polymorphism rs1543297 was significantly associated with prospectively occurring fractures (p = 0.008). In a model taking into account rs1543297 and rs1800247 along with TB BMD, BMI, smoking and S-TotalOC, the polymorphisms together were able to identify an additional 6% of women who sustained a fracture (p = 0.02). We found no association between the polymorphisms and TB BMD, BMI or TB fat mass. In conclusion, polymorphisms in and around the osteocalcin locus are significantly associated with S-TotalOC and fracture. Genotyping at the osteocalcin locus could add valuable information in the identification of women at risk of osteoporosis. (c) 2010 American Society for Bone and Mineral Research.},
  author       = {McGuigan, Fiona and Kumar, Jitender and Ivaska, Kaisa and Obrant, Karl and Gerdhem, Paul and Åkesson, Kristina},
  issn         = {1523-4681},
  language     = {eng},
  pages        = {1392--1399},
  publisher    = {AMBMR},
  series       = {Journal of Bone and Mineral Research},
  title        = {Osteocalcin gene polymorphisms influence concentration of serum osteocalcin and enhance fracture identification.},
  url          = {http://dx.doi.org/10.1002/jbmr.32},
  volume       = {Apr 7},
  year         = {2010},
}