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目的研究雌激素受体基因PvuⅡ和XbaI多态性与骨密度的关系。方法通过聚合酶链反应-限制性片段长度多态性方法对528名居民ER基因的PvuⅡ和XbaI多态性进行基因分型,并分析各种基因型与腰椎L2-4、股骨颈和前臂等部位骨密度的关系。结果绝经后妇女ER基因的XbaI多态性“XX”型的股骨颈骨密度最低(P<0·05),腰椎L2-4和前臂的骨密度虽然“XX”型倾向于最低,但没有达到显著性水平。Stepwise线性回归分析表明年龄、BMI和XbaI多态性是股骨颈骨密度的影响因素(P<0·001)。而PvuⅡ多态性在腰椎L2-4、股骨颈和前臂骨密度无显著性差异。绝经前妇女PvuⅡ多态性仅在股骨颈骨密度上有差异,“PP”型的骨密度最高(P<0·05),而XbaI多态性不同基因型之间腰椎L2-4、股骨颈和前臂骨密度无显著性差异。男性ER基因的XbaI多态性“XX”型的腰椎L2-4、股骨颈和前臂骨密度均倾向于最低,但由于例数较少没有达到显著性水平。结论绝经后妇女“XX”型是股骨颈低骨量的危险因素,绝经前妇女“PP”型是骨量的保护因素。
Objective To study the relationship between estrogen receptor gene Pvu Ⅱ and XbaI polymorphism and bone mineral density. Methods The genotypes of PvuⅡ and XbaI polymorphisms of ER genes in 528 residents were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and analyzed for genotypes such as L2-4, femoral neck and forearm Part of the relationship between bone mineral density. Results The XbaI polymorphism of ER gene in postmenopausal women had the lowest femoral neck bone density (“XX”) (P <0.05). The BMD of lumbar L2-4 and forearm tended to be the lowest, but not reached Significance level. Stepwise linear regression analysis showed that age, BMI and XbaI polymorphism were the influencing factors of femoral neck BMD (P <0.001). The Pvu Ⅱ polymorphism in lumbar L2-4, femoral neck and forearm bone mineral density was no significant difference. Pvu Ⅱ polymorphism in premenopausal women only had differences in femoral neck BMD, “PP” type had the highest BMD (P <0.05), while XbaI polymorphism was associated with L2-4 in the lumbar spine, femoral neck There was no significant difference in forearm BMD. XbaI Polymorphism of Male ER Genes The “XX” type lumbar L2-4, femoral neck and forearm BMD tended to be the lowest, but did not reach significance due to the small number of cases. Conclusion “XX” type of postmenopausal women is a risk factor of femoral neck low bone mass, and “PP” type of premenopausal women is the protective factor of bone mass.