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

doi:10.1016/j.bbrc.2009.05.006

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

Endocrinology, Diabetes and Clinical Nutrition

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

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 language	English (US)
Pages (from-to)	501-505
Number of pages	5
Journal	Biochemical and Biophysical Research Communications
Volume	384
Issue number	4
DOIs	https://doi.org/10.1016/j.bbrc.2009.05.006
State	Published - Jul 10 2009

Keywords

BMD
COL1A2
Collagen
Osteoporosis
Polymorphism
SNP
Stroke
rs42524

ASJC Scopus subject areas

Biophysics
Biochemistry
Molecular Biology
Cell Biology

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10.1016/j.bbrc.2009.05.006

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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

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

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title = "Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk",

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.",

keywords = "BMD, COL1A2, Collagen, Osteoporosis, Polymorphism, SNP, Stroke, rs42524",

author = "Katarina Lindahl and Rubin, {Carl Johan} and Helena Br{\"a}ndstr{\"o}m and Karlsson, {Magnus K.} and Anna Holmberg and Claes Ohlsson and Dan Mellstr{\"o}m and Eric Orwoll and Hans Mallmin and Andreas Kindmark and {\"O}sten Ljunggren",

note = "Funding Information: We are grateful to Anna-Lena Johansson, Ann-Charlott Adolfsson and Marja Gustafsson for skillful technical assistance. This work was supported by grants from the Swedish research council, project No. 2007-2946.",

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AU - Lindahl, Katarina

AU - Rubin, Carl Johan

AU - Brändström, Helena

AU - Karlsson, Magnus K.

AU - Holmberg, Anna

AU - Ohlsson, Claes

AU - Mellström, Dan

AU - Orwoll, Eric

AU - Mallmin, Hans

AU - Kindmark, Andreas

AU - Ljunggren, Östen

N1 - Funding Information: We are grateful to Anna-Lena Johansson, Ann-Charlott Adolfsson and Marja Gustafsson for skillful technical assistance. This work was supported by grants from the Swedish research council, project No. 2007-2946.

PY - 2009/7/10

Y1 - 2009/7/10

N2 - 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.

AB - 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.

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KW - Stroke

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

Abstract

Keywords

ASJC Scopus subject areas

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