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

Katarina Lindahl, Carl-Johan Rubin, Helena Brandstrom, Magnus Karlsson, Anna H Holmberg, Claes Ohlsson, Dan Mellstrom, Eric Orwoll, Hans Mallmin, Andreas Kindmark, Osten Ljunggren

Research output: Contribution to journalArticlepeer-review


Genetic variation plays ail 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 Further-more, the heterozygote genotype had ail increased risk of stroke and MI, with population Attributable Risks being 0.12 and 0.08, respectively. (C) 2009 Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)501-505
JournalBiochemical and Biophysical Research Communications
Issue number4
Publication statusPublished - 2009

Subject classification (UKÄ)

  • Biological Sciences

Free keywords

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


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