北京地区汉族妇女瘦素受体基因Gln223Arg多态性和骨密度的关系

目的　探讨瘦素受体基因Gln2 2 3Arg多态性与青年妇女骨峰值和绝经后骨质疏松妇女骨密度的关系。方法　筛选 2 19例健康青年妇女和 10 2例绝经后骨质疏松妇女 ,用双能X线吸收测定法检测研究对象腰椎和髋部的骨密度 ,用PCR 限制性片段长度多态性分析方法检测研究对象的瘦素受体基因Gln2 2 3Arg的基因型。 结果　本研究人群中瘦素受体基因Gln2 2 3Arg基因型及基因频率的分布符合Hardy Weinberg定律 ,提示本研究人群是一个平衡群体。青年妇女组瘦素受体基因Gln2 2 3Arg的GG基因型组腰椎 2～ 4的骨密度高于GA和AA基因型组 (1.2 13± 0 .12 7) g/cm2 比(1.15 4± 0 .12 4 ) g/cm2 ,P <0 .0 5 ],在股骨颈、Ward三角区、大转子部位各基因型组间骨密度值无统计学差异 ;10 2例绝经后骨质疏松妇女中LEPR基因Gln2 2 3Arg各基因型组间在腰椎 2～ 4、股骨颈、Ward三角区、大转子部位的骨密度值均无统计学差异。偏相关分析进一步表明青年妇女组的瘦素受体基因多态性与腰椎 2～ 4的骨密度相关 (r =- 0 .15 1,P <0 .0 5 )。结论　瘦素受体基因Gln2 2 3Arg的多态性与青年妇女腰椎 2～ 4骨峰值的获得和维持有关 ,可能是骨峰值独立的影响因素 ,等位基因G可能是骨量的保护因子 ,可作为预测汉族妇女骨质疏松发生危险性的遗传

Bone mineral density and leptin receptor polymorphism Gln223Arg in Han women in Beijing

OBJECTIVE: To investigate the association between bone mineral density (BMD) and leptin receptor (LEPR) polymorphism (Gln223 Arg) in young women and postmenopausl osteoporotic women. METHODS: BMD values were determined by dual energy X-ray absorptiometry. The Gln223 Arg genotypes of LEPR were analyzed by using polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: Hardy-Weinberg equilibrium was evident for LEPR polymorphism. The subjects carrying the GG genotype of LEPR had significantly higher BMD at lumbar spine as compared with the subjects with GA and AA genotype in young women (1.213 +/- 0.127) g/cm(2) vs (1.154 +/- 0.124) g/cm(2), P < 0.05]. There were no significant differences in BMD at the proximal femur among GG, GA and AA genotype in young women. No significant differences in BMD at all sites were observed among GG, GA and AA genotype in postmenopausl osteoporotic women. Correlation was found between BMD and leptin receptor polymorphism (Gln223 Arg) at lumbar spine (r = -0.151, P < 0.05). CONCLUSION: Leptin receptor polymorphism (Gln223 Arg) has association with peak bone mass in young women, which may be used as genetic marker in predicting the risk of developing osteoporosis in Chinese women of Han nationality.