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

被引：25

作者：

Lindahl, Katarina ^{[1
]}

Rubin, Carl-Johan ^{[1
]}

Brandstrom, Helena ^{[1
]}

Karlsson, Magnus K. ^{[2
]}

Holmberg, Anna ^{[2
]}

Ohlsson, Claes ^{[3
]}

Mellstrom, Dan ^{[3
]}

Orwoll, Eric ^{[4
]}

Mallmin, Hans ^{[5
]}

Kindmark, Andreas ^{[1
]}

Ljunggren, Osten ^{[1
]}

机构：

[1] Univ Uppsala Hosp, Dept Med Sci, S-75185 Uppsala, Sweden

[2] Lund Univ, Malmo Univ Hosp, Dept Clin Sci & Orthopaed, Clin & Mol Osteoporosis Res Unit, Malmo, Sweden

[3] Gothenburg Univ, Dept Internal Med, Ctr Bone Res, Sahlgrenska Acad CBS, Gothenburg, Sweden

[4] Oregon Hlth & Sci Univ, Portland, OR 97201 USA

[5] Univ Uppsala Hosp, Dept Surg Sci, Uppsala, Sweden

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2009年 / 384卷 / 04期

基金：

瑞典研究理事会;

关键词：

BMD; Collagen; COL1A2; Osteoporosis; Polymorphism; rs42524; SNP; Stroke; BONE-MINERAL DENSITY; FLUORESCENCE POLARIZATION; OSTEOGENESIS IMPERFECTA; GENETIC-DETERMINANTS; DANLOS-SYNDROME; BINDING-SITES; COLLAGEN; HERITABILITY; POLYMORPHISM; MASS;

D O I：

10.1016/j.bbrc.2009.05.006

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：501 / 505

页数：5

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