青春前期女童钙感应受体基因多态性与骨量关系  

Association of calcium sensing receptor gene A986S polymorphism with bone mineral density in Chinese premenarche girls

作　　者：肖新才[1] 苏宜香[1] 罗晓林[1] 

机构地区：[1]广州市疾病预防控制中心,510080

出　　处：《中国公共卫生》2006年第9期1035-1037,共3页Chinese Journal of Public Health

摘　　要：目的了解我国青春前期女童钙感应受体（CASR）A986S基因多态性分布并探讨其对骨量的影响。方法选择153名9～11．5岁未月经初潮的健康女童，采用双能X线骨密度仪（DXEA）检测对象全身、L1—L4腰椎、左侧近端股骨的骨矿含量、骨密度以及体成分。采用等位基因特异性突变扩增PCR技术检测CASRA986S多态性。结果152名对象CASR基因A986S多态性基因型的分布频率分别为：野生型纯合子（AA）91．44％，杂合子（AS）7，89％，突变型纯合子（SS）为0．67％，研究对象基因型中含有s等位基因者TBBMD、TBBMC，L1-L4LSBMD均显著低于基因型中不含S等位基因者（P〈0．05）。其中含S等位基因者TBBMD比无S等位基因者低5％，TBBMC下降了约10％。结论CASRA986S基因多态性与骨量有关。有S等位基因者TBBMC、TBBMD显著低于无S基因者。Objective To assess the proportion of genotypes of CASRA986S gene polyrnorphism, and to investigate if the polymorphism of CASRA986S gene is associated with bone mineral density（BMD） in premenarehe Chinese girls. Methods 152 healthy premenarche girls of Han ethic（9-11.5y）were recruited. BMD and BMC at the lumber spine（L1-L4）, proximal femur, and total body were measured by DXA; Allele-specific PCR was used to amplify A986S polyrnorphisms of the CASR gene. Results The proportions of genotype AA, AS and SS of CASRA986S gene were 91.44 % 7.89 % and 0.67 %, respectively. The values of bone mass and bone marker in the subjects with the S allele decreased by 5 % （TBBMD）, 10 % （TBBMC） and 4.6% （L1-L4L SBMD）and 3.5 % in Ostocalcin as compared with those without the S allele（P 〈 0.01, respectively）. The differences in BMD and BMC between subjects with and without the S allele remained （P 〈 0.01 ）even including the terms of age, height, weight, calcium intake, fat mass, lean mass and physical activity in the general liner model. Conclusion Significant association exists between a common polyrnorphism and bone mineral density in prelnenarehe Chinese girls. The S allele ofA986S polymorphism is also a potential predisposing factor of low bone mineral density.

关 键 词：钙感应受体 基因多态性 骨质疏松 骨密度(BMD) 

分 类 号：R179[医药卫生—妇幼卫生保健]