小规模多中心骨质疏松生物样本库的构建及应用探索研究

目的为了满足骨质疏松流行病学调查、公共卫生防治及个性化临床干预研究的需要,建立小规模多中心骨质疏松前瞻性生物样本库。方法以骨质疏松样本库建设项目为依托,利用社区及医院体检数据平台,选择40~70岁愿意配合长期随访且无影响骨代谢特定疾病的人群作为样本库样本入库对象,收集流行病学调查问卷并签署知情同意书,采集空腹尿10 mL,促凝血和抗凝血各5 mL。利用双能X射线骨密度测定仪测定入库人群的腰椎(L_(1~4))、总髋、股骨颈、Ward’s三角区等部位的骨密度。抗凝血中白细胞提取DNA进行骨质疏松易感基因位点基因分型。血尿相关指标每年测定一次,骨密度正常阶段5年测定一次,骨量减少-2.0以上3年测定一次,-2.0以下和骨质疏松人群一年测定一次。首次测定作为基线数据,连续随访10年。结果样本库包括5000人的骨密度数据、流行病学调查资料,血清、血浆白细胞及DNA等生物样本,血钙、尿钙、遗传易感基因位点SNP分型等数据。结论该骨质疏松样本库可以用于骨质疏松病因学调查、干预新靶点探索及个性化临床干预的研究,同时首次将睡眠质量纳入到骨质疏松流行病学调查体系中。

Construction and application of a multicenter osteoporosis bio-bank

Objective We aimed to construct a multicenter osteoporosis bio-bank and to provide data and bio-samples for perspective epidemiological surveys, personalized clinical therapy and public health preventive treatment of osteoporosis. Methods Ethical review based on the project of constructing osteoporosis sample bank. Using the data platform of community and hospital physical examination, subjects aged between 40 and 70 years without special diseases that affect bone and calcium metabolism and can corporate with long term follow-up visits were selected. Bone mineral density was measured at lumbar spine (L1-4), femoral neck, wards region and total hip, using dual energy X-ray absorptiometry. Fasting urine samples (10 mL), and procoagulant and anticoagulant of peripheral blood (5 mL each) samples of all participants were collected according to the sample collecting rules of ISBER. DNA was extracted from the white cell of anticoagulant of peripheral blood and some susceptibility gene loci were genotyped. Urinary and blood index were measured once a year. Bone mineral density of those with T-score <-2.0 were measured every year, with T-score between -1.0 and -2.0 were measured every two years, and with T-score >-1.0 were measured every five years. The data of first measurement were regarded as baseline, and follow-up period is ten years. Results The osteoporosis bio-bank including 5000 subjects with data of BMD, blood samples, epidemiological data and some genetic information of osteoporosis candidate gene have been constructed. Conclusion Osteoporosis bio-bank is suitable for prospective or intervention studies of osteoporosis in Chinese geriatric cohort. It was the first time that sleep quality and sleep genetic information have been collected in the osteoporosis bio-bank.