Heterozygosity for a coding SNP in COL1A2
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- 作者：Katarina Lindahl ; Carl-Johan Rubin ; Helena Brä ; ndströ ; m ; Magnus K. Karlsson ; Anna Holmberg ; Claes Ohlsson ; Dan Mellströ ; m ; Eric Orwoll ; Hans Mallmin ; Andreas Kindmark ; Ö ; sten Ljunggren
- 关键词：BMD ; Collagen ; COL1A2 ; Osteoporosis ; Polymorphism ; rs42524 ; SNP ; Stroke
- 刊名：Biochemical and Biophysical Research Communications
- 出版年：2009
- 出版时间：10 July 2009
- 年：2009
- 卷：384
- 期：4
- 页码：501-505
- 全文大小：219 K
文摘
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.