Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk
| Autor: | Andreas Kindmark, Östen Ljunggren, Helena Brändström, Dan Mellström, Anna Holmberg, Hans Mallmin, Magnus Karlsson, Carl-Johan Rubin, Katarina Lindahl, Claes Ohlsson, Eric S. Orwoll |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Risk musculoskeletal diseases Heterozygote medicine.medical_specialty Candidate gene Bone density Osteoporosis Population Biophysics Single-nucleotide polymorphism Polymorphism Single Nucleotide Biochemistry Collagen Type I Cohort Studies Bone Density Internal medicine Genotype medicine Humans education Molecular Biology Aged Femoral neck Sweden education.field_of_study business.industry Heterozygote advantage Cell Biology medicine.disease Stroke medicine.anatomical_structure Endocrinology Collagen business |
| Zdroj: | Biochemical and Biophysical Research Communications. 384:501-505 |
| ISSN: | 0006-291X |
| DOI: | 10.1016/j.bbrc.2009.05.006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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