The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample
The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample
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DOI：
10.1007/s00439-009-0708-8
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发表时间：
2009-06
期刊：
影响因子：
5.3
通讯作者：
Meliha Karsak;I. Malkin;M. Toliat;C. Kubisch;P. Nürnberg;A. Zimmer;G. Livshits
中科院分区：
文献类型：
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作者：
Meliha Karsak;I. Malkin;M. Toliat;C. Kubisch;P. Nürnberg;A. Zimmer;G. Livshits
在病例对照研究中，编码大麻素受体CB 2的CNR 2基因内的遗传变异已被证明与骨质疏松症和低骨矿物质密度（BMD）相关。我们现在研究了CNR 2多态性与手骨强度的关系，研究对象是一个生活在俄罗斯的欧洲血统（楚瓦什人）的同质健康家族样本。通过两种不同的传递不平衡检验，我们发现非同步CNR 2单核苷酸多态性与手部骨密度和抗折弯曲指数（BBRI）显著相关。对于这两个测试，在CNR 2位点上额外的SNPs也获得了非常显著的p值（手部BMD为0.007 - 0.008，BBRI为0.001 - 0.003）。经多重检验校正后，相关性仍然显著。总之，除了CNR 2多态性与选定的临床相关骨骼部位的低BMD相关外，我们现在使用基于家族的研究设计报告其与手部骨强度表型的显著相关性，这意味着CNR 2基因座的遗传变异对骨结构和功能的影响更广泛。
Genetic variants within theCNR2gene encoding the cannabinoid receptor CB2 have been shown to be associated with osteoporosis and low bone mineral density (BMD) in case-control studies. We now examined the association of polymorphisms inCNR2with hand bone strength in an ethnically homogeneous healthy family sample of European origin (Chuvashians) living in Russia. We show that non-synonymousCNR2SNPs are significantly associated with radiographic hand BMD and breaking bending resistance index (BBRI) by two different transmission disequilibrium tests. For both tests highly significantpvalues (ranging from 0.007 to 0.008 for hand BMD, and from 0.001 to 0.003 for BBRI) were also obtained with additional SNPs at theCNR2locus. The associations remained significant after correction for multiple testing. In conclusion, in addition to the association ofCNR2polymorphisms with low BMD at selected clinically relevant skeletal sites, we now report their significant association with hand bone strength phenotypes using a family-based study design implying an even broader impact of genetic variation at theCNR2locus on bone structure and function.