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目的探讨过氧化物酶体增殖体激动受体γ(PPARγ)基因第6外显子C161→T的单核苷酸多态性(SNP)与青年妇女骨峰值及绝经后低骨量妇女骨密度的关系。方法筛选2004年1月至2005年1月北京安贞医院和北京协和医院收集的219例健康青年妇女和102例绝经后低骨量妇女,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,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析法检测研究对象的PPARγ基因第6外显子C161→T的基因型。结果研究人群中PPARγ基因第6外显子C161→T的基因型及基因频率的分布符合Hardy-Weinberg定律;校正年龄、体重、身高和体重指数对骨密度的影响后,219名青年妇女和102名绝经后妇女中PPARγ各基因型组间在L2-4、股骨近端部位的BMD值差异均无统计学意义(P>0·05)。结论PPARγ基因C161→T的SNP可能不是汉族妇女骨质疏松症遗传影响因素,其基因型的检测可能对筛查汉族妇女骨质疏松症高危人群的意义不大。
Objective To investigate the relationship between single nucleotide polymorphism (SNP) of exon 6 of exon 6 of peroxisome proliferator activated receptor γ (PPARγ) gene and peak bone mass in young women and bone mass in postmenopausal women with low bone mass Relationship. METHODS: A total of 219 healthy young women and 102 postmenopausal women with low bone mass collected from Beijing Anzhen Hospital and Peking Union Medical College Hospital from January 2004 to January 2005 were enrolled in this study. Bilinear X-ray absorptiometry was used to detect the lumbar spine and hip The genotypes of exon 6 C161 → T of PPARγ gene were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The distribution of genotype and frequency of C161 → T in exon 6 of PPARγ gene was in line with Hardy-Weinberg’s law. After adjusting for the effects of age, weight, height and body mass index on bone mineral density, 219 young women and 102 In postmenopausal women, there was no significant difference in the BMD values between the genotypes of PPARγ in L2-4 and proximal femur (P> 0.05). Conclusion SNP of PPARγ gene C161 → T may not be the genetic predisposing factor for osteoporosis in Han women. The detection of its genotype may not be significant for screening high risk population of osteoporosis in Han women.