Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk

Katarina Lindahl, Carl Johan Rubin, Helena Brändström, Magnus K. Karlsson, Anna Holmberg, Claes Ohlsson, Dan Mellström, Eric Orwoll, Hans Mallmin, Andreas Kindmark, Östen Ljunggren

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Abstract

Genetic variation plays an important role in osteoporosis and a prime candidate gene is Collagen alpha2(I) (COL1A2). A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms. Here the effects of this polymorphism have been studied in relation to bone mineral density (BMD) and prevalences of stroke and myocardial infarction (MI). rs42524 was genotyped in elderly men (n = 2004) from the Swedish MrOS cohort. Genotypes were analysed for association to BMD and certain health parameters. Significant associations (overall P < 0.05), were observed between rs42524 genotype and BMD at several skeletal sites. Surprisingly, the heterozygote genotype class exhibited lower BMD than either homozygote group. When subjects were classified as heterozygotes or homozygotes, the heterozygous genotype was found to confer a lower BMD at total hip, femoral neck and trochanter Furthermore, the heterozygote genotype had an increased risk of stroke and MI, with population Attributable Risks being 0.12 and 0.08, respectively.

Original languageEnglish (US)
Pages (from-to)501-505
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume384
Issue number4
DOIs
StatePublished - Jul 10 2009

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Keywords

  • BMD
  • COL1A2
  • Collagen
  • Osteoporosis
  • Polymorphism
  • SNP
  • Stroke
  • rs42524

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Lindahl, K., Rubin, C. J., Brändström, H., Karlsson, M. K., Holmberg, A., Ohlsson, C., Mellström, D., Orwoll, E., Mallmin, H., Kindmark, A., & Ljunggren, Ö. (2009). Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. Biochemical and Biophysical Research Communications, 384(4), 501-505. https://doi.org/10.1016/j.bbrc.2009.05.006