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目的探讨载脂蛋白E基因多态性与原发性骨质疏松症、骨质疏松性骨折的相关性。方法选出60例原发性骨质疏松患者,其中髋部骨折组30例均为新近骨折并有X线片为诊断依据,30例健康对照组性别、年龄与之对应。全部对象均行骨密度测定;采静脉血,EDTA抗凝;淋巴细胞分离液分离白细胞,置-80℃保存;分离的白细胞中提取DNA;基因位点DNA扩增;PCR扩增产物SSCP分析。结果骨质疏松组及骨质疏松性骨折组载脂蛋白E基因2型、3型、4型等位基因频率分别为0.05、0.80和0.15,0.1167、0.5667和0.3167,而30例健康对照组依次为0.10、0.8667和0.0333。载脂蛋白E基因4型等位基因频率三组比较差异有显著性(X2=17.520,P<0.01);骨质疏松组及骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于正常人群;骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于骨质疏松组。结论载脂蛋白E4与原发性骨质疏松症、骨质疏松性骨折有密切相关性;载脂蛋白E4是原发性骨质疏松症,尤其是骨质疏松性骨折一个有用的标志物。
Objective To investigate the relationship between apolipoprotein E polymorphism and primary osteoporosis and osteoporotic fracture. Methods Sixty primary osteoporosis patients were selected. Among them, 30 cases of hip fracture were newly fractured and X-ray was used as the basis for diagnosis. The 30 healthy controls were matched in gender and age. All subjects underwent bone mineral density determination; venous blood and EDTA were anticoagulated; leukocytes were isolated from lymphocytes and stored at -80 ° C; DNA was extracted from isolated white blood cells; DNA was amplified from the loci; and SSCP analysis of PCR products was performed. Results The frequencies of apolipoprotein E gene type 2, type 3 and type 4 alleles in osteoporosis group and osteoporotic fracture group were 0.05, 0.80 and 0.15, 0.1167, 0.5667 and 0.3167 respectively, while those in 30 healthy controls 0.10, 0.8667 and 0.0333. The allele frequency of apolipoprotein E 4 allele was significantly different among the three groups (X2 = 17.520, P <0.01). The frequency of apolipoprotein E gene type 4 in osteoporosis group and osteoporotic fracture group was significantly higher In normal population, the frequency of apolipoprotein E gene type 4 in osteoporotic fracture group was significantly higher than that in osteoporosis group. Conclusion Apolipoprotein E4 is closely related to primary osteoporosis and osteoporotic fracture. Apolipoprotein E4 is a useful marker of primary osteoporosis, especially osteoporotic fracture.