Takács I, Speer G, Bajnok E, Tabák A, Nagy Z, Horváth C, Kovács K, Lakatos P
First Department of Medicine, Semmelweis University, Budapest, Hungary.
Bone. 2002 Jun;30(6):849-52. doi: 10.1016/s8756-3282(02)00741-x.
Calcium-sensing receptor (CaSR) is an attractive candidate gene for osteoporosis susceptibility. The CaSR "A986S" genotype has been shown to have an effect on serum calcium. Recently, an association has been reported between the CaSR gene A986S polymorphism and bone mineral density in healthy white girls. In this study, we examined whether CaSR gene A986S polymorphism is associated with decreased bone mass in 230 Hungarian postmenopausal women. From this cohort, 108 osteoporotic patients were compared with 122 healthy control women. Bone mineral density (BMD) was measured at the lumbar spine (L2-4) and femoral neck using dual-energy X-ray absorptiometry. Allele-specific polymerase chain reaction was used to amplify A986S polymorphisms of the CaSR gene. We found no difference in the distribution of different alleles or genotypes between groups (p = 0.762). No significant effect of CaSR genotype on BMD was observed either in the whole population or in the subgroups. Our data do not support the idea that CaSR gene A986S polymorphism has an impact on bone mass.
钙敏感受体（CaSR）是骨质疏松易感性的一个有吸引力的候选基因。CaSR“A986S”基因型已被证明对血清钙有影响。最近，有报道称CaSR基因A986S多态性与健康白人女孩的骨密度之间存在关联。在本研究中，我们调查了CaSR基因A986S多态性是否与230名匈牙利绝经后女性的骨量减少有关。在这个队列中，将108名骨质疏松患者与122名健康对照女性进行了比较。使用双能X线吸收法测量腰椎（L2 - 4）和股骨颈的骨密度。采用等位基因特异性聚合酶链反应扩增CaSR基因的A986S多态性。我们发现两组之间不同等位基因或基因型的分布没有差异（p = 0.762）。在整个人群或亚组中，均未观察到CaSR基因型对骨密度有显著影响。我们的数据不支持CaSR基因A986S多态性对骨量有影响这一观点。
