Sennels H P, Sand J C, Madsen B, Lauritzen J B, Fenger M, Jørgensen H L
Department of Clinical Biochemistry, Hvidovre University Hospital, Denmark.
Scand J Clin Lab Invest. 2003;63(4):247-58. doi: 10.1080/00365510310001177.
A genetic contribution to the development of osteoporosis is well documented. Although the association between the common allelic variation of apolipoprotein E (APOE), fracture risk, bone loss and bone mineral density (BMD) has been examined in several studies, the results of these investigations are contradictory. The aim of this study was to examine the association between polymorphisms of APOE, BMD of the lower forearm, quantitative ultrasound of the calcaneus and osteoporotic fractures in a population of postmenopausal women with hip or lower forearm fractures admitted to a department of orthopaedic surgery and age-matched controls from the population register. The APOE genotypes of 327 women were studied: 73 with lower forearm fractures, 43 with hip fractures and 211 age-matched controls. The participants were not receiving antiosteoporotic treatment. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to detect the APOE genotypes. Quantitative ultrasound was measured at the calcaneus. Bone mineral density (BMD) of the lower forearm was measured with dual-energy X-ray absorptiometry. The distributions of genotype frequencies in this study were: E2/E2: 0.3%; E2/E3: 16.5%; E2/E4: 2.5%; E3/E3: 54.7%; E3/E4: 24.2%; E4/E4: 1.8%. All subpopulations were in Hardy-Weinburg equilibrium. There was no association between bone mass parameters and the APOE allele groups. Logistic regression analysis did not show any association between fractures and APOE allele groups. In conclusion, this study showed no association between bone mass parameters (BMD, speed of sound (SOS), broadband ultrasound attenuation (BUA)), hip or lower forearm fracture and APOE genotypes in a population of postmenopausal women and age-matched controls.
骨质疏松症发展过程中的遗传作用已有充分记录。尽管多项研究已对载脂蛋白E(APOE)的常见等位基因变异与骨折风险、骨质流失及骨密度(BMD)之间的关联进行了检测,但这些研究结果相互矛盾。本研究的目的是,在一群因髋部或前臂骨折而入住骨科手术科室的绝经后女性以及来自人口登记处的年龄匹配对照组中,检测APOE基因多态性、前臂远端骨密度、跟骨定量超声与骨质疏松性骨折之间的关联。对327名女性的APOE基因型进行了研究:73名患有前臂远端骨折,43名患有髋部骨折,211名年龄匹配的对照组。参与者未接受抗骨质疏松治疗。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测APOE基因型。在跟骨处测量定量超声。采用双能X线吸收法测量前臂远端的骨密度。本研究中基因型频率分布为:E2/E2:0.3%;E2/E3:16.5%;E2/E4:2.5%;E3/E3:54.7%;E3/E4:24.2%;E4/E4:1.8%。所有亚组均处于哈迪-温伯格平衡。骨量参数与APOE等位基因组之间无关联。逻辑回归分析未显示骨折与APOE等位基因组之间存在任何关联。总之,本研究表明,在绝经后女性群体及年龄匹配对照组中,骨量参数(骨密度、声速(SOS)、宽带超声衰减(BUA))、髋部或前臂远端骨折与APOE基因型之间无关联。