Varanasi Satya S, Tuck Stephen P, Mastana Sarabjit S, Dennison Elaine, Cooper Cyrus, Vila Josephine, Francis Roger M, Datta Harish K
Musculoskeletal Research Group, Institute of Cellular Medicine, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.
J Osteoporos. 2011;2011:243465. doi: 10.4061/2011/243465. Epub 2011 Oct 13.
Introduction. The association of bone morphogenetic protein 2 (BMP2) with BMD and risk of fracture was suggested by a recent linkage study, but subsequent studies have been contradictory. We report the results of a study of the relationship between BMP2 genotypes and BMD, annual change in BMD, and risk of fracture in male subjects. Materials and Methods. We tested three single-nucleotide polymorphisms (SNPs) across the BMP2 gene, including Ser37Ala SNP, in 342 Caucasian Englishmen, comprising 224 control and 118 osteoporotic subjects. Results. BMP2 SNP1 (Ser37Ala) genotypes were found to have similar low frequency in control subjects and men with osteoporosis. The major informative polymorphism, BMP2 SNP3 (Arg190Ser), showed no statistically significant association with weight, height, BMD, change in BMD at hip or lumbar spine, and risk of fracture. Conclusion. There were no genotypic or haplotypic effects of the BMP2 candidate gene on BMD, change in BMD, or fracture risk identified in this cohort.
引言。最近的一项连锁研究表明骨形态发生蛋白2（BMP2）与骨密度及骨折风险有关，但随后的研究结果相互矛盾。我们报告了一项关于男性受试者中BMP2基因分型与骨密度、骨密度年度变化及骨折风险之间关系的研究结果。材料与方法。我们在342名英国白人男性中检测了BMP2基因上的三个单核苷酸多态性（SNP），包括Ser37Ala SNP，其中有224名对照者和118名骨质疏松症患者。结果。发现BMP2 SNP1（Ser37Ala）基因型在对照者和患有骨质疏松症的男性中频率相似。主要的信息性多态性BMP2 SNP3（Arg190Ser）与体重、身高、骨密度、髋部或腰椎骨密度变化以及骨折风险均无统计学上的显著关联。结论。在该队列中未发现BMP2候选基因的基因型或单倍型对骨密度、骨密度变化或骨折风险有影响。
