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

Lindahl, Katarina; Rubin, Carl-Johan; Brandstrom, Helena; Karlsson, Magnus LU ; Holmberg, Anna H LU ; Ohlsson, Claes; Mellstrom, Dan; Orwoll, Eric; Mallmin, Hans and Kindmark, Andreas, et al. (2009) In Biochemical and Biophysical Research Communications 384(4). p.501-505
Abstract
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.... (More)
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. (Less)
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keywords
Stroke, SNP, rs42524, Polymorphism, Osteoporosis, COL1A2, BMD, Collagen
in
Biochemical and Biophysical Research Communications
volume
384
issue
4
pages
501 - 505
publisher
Elsevier
external identifiers
  • wos:000266689300020
  • scopus:65649125634
ISSN
1090-2104
DOI
10.1016/j.bbrc.2009.05.006
language
English
LU publication?
yes
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44b368f4-d869-477b-869a-ff80de59f881 (old id 1444138)
date added to LUP
2009-07-17 10:19:48
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2017-01-01 06:04:11
@article{44b368f4-d869-477b-869a-ff80de59f881,
  abstract     = {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 &lt; 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.},
  author       = {Lindahl, Katarina and Rubin, Carl-Johan and Brandstrom, Helena and Karlsson, Magnus and Holmberg, Anna H and Ohlsson, Claes and Mellstrom, Dan and Orwoll, Eric and Mallmin, Hans and Kindmark, Andreas and Ljunggren, Osten},
  issn         = {1090-2104},
  keyword      = {Stroke,SNP,rs42524,Polymorphism,Osteoporosis,COL1A2,BMD,Collagen},
  language     = {eng},
  number       = {4},
  pages        = {501--505},
  publisher    = {Elsevier},
  series       = {Biochemical and Biophysical Research Communications},
  title        = {Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk},
  url          = {http://dx.doi.org/10.1016/j.bbrc.2009.05.006},
  volume       = {384},
  year         = {2009},
}