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

Research output: Contribution to journalArticle

14 Citations (Scopus)

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

Fingerprint

Bone Density
Single Nucleotide Polymorphism
Minerals
Bone
Stroke
Genotype
Heterozygote
Homozygote
Polymorphism
Myocardial Infarction
Femur Neck
Intracranial Aneurysm
Collagen Type I
Femur
Osteoporosis
Hip
Genes
alpha 2(I) collagen
Health
Population

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

Cite this

Lindahl, K., Rubin, C. J., Brändström, H., Karlsson, M. K., Holmberg, A., Ohlsson, C., ... 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

Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. / Lindahl, Katarina; Rubin, Carl Johan; Brändström, Helena; Karlsson, Magnus K.; Holmberg, Anna; Ohlsson, Claes; Mellström, Dan; Orwoll, Eric; Mallmin, Hans; Kindmark, Andreas; Ljunggren, Östen.

In: Biochemical and Biophysical Research Communications, Vol. 384, No. 4, 10.07.2009, p. 501-505.

Research output: Contribution to journalArticle

Lindahl, K, Rubin, CJ, Brändström, H, Karlsson, MK, 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, vol. 384, no. 4, pp. 501-505. https://doi.org/10.1016/j.bbrc.2009.05.006
Lindahl, Katarina ; Rubin, Carl Johan ; Brändström, Helena ; Karlsson, Magnus K. ; Holmberg, Anna ; Ohlsson, Claes ; Mellström, Dan ; Orwoll, Eric ; Mallmin, Hans ; Kindmark, Andreas ; Ljunggren, Östen. / Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. In: Biochemical and Biophysical Research Communications. 2009 ; Vol. 384, No. 4. pp. 501-505.
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