Zhang H, Tao G, Wu Q, Liu J, Gao Y, Chen R, Leng X
Institute of Geriatric & Gerontology, 301 Hospital, Beijing 100853, China.
Chin Med J (Engl). 2000 Sep;113(9):787-9.
Polymorphism in vitamin D receptor (VDR) gene has been reported to play a major role in variations for genetic regulation of bone mass. Its role within various ethnic populations is not clear. The purpose of this study was to determine the frequencies of VDR genotypes in the Han and Uygur nationalities in China.
We analyzed the polymorphism of Bsm I restriction enzyme by PCR-RFLP technique in 162 healthy postmenopausal women of the Han nationality and 50 healthy postmenopausal women of the Uygur nationality in China. The genotype frequencies of VDR were calculated using Hardy-Weinberg equilibrium formula.
In the Han nationality, the bb, Bb, and BB genotype accounted for 91.36%, 8.64% and 0%, respectively. In the Uygur nationality, frequencies were 74.00%, 18.00% and 8.00%, respectively.
There was a significant difference between the Han and Uygur nationalities in the frequency distribution of VDR genotype (P < 0.01). Compared with the Caucasian population in the United States, Australia and France, there was a similar value to Uygur nationality in the BB genotype. This investigation gave us further evidence on the different etiopathology of osteoporosis in various ethnic groups.
据报道,维生素D受体(VDR)基因多态性在骨量遗传调控变异中起主要作用。其在不同种族人群中的作用尚不清楚。本研究的目的是确定中国汉族和维吾尔族人群中VDR基因型的频率。
我们采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析了162名中国汉族健康绝经后女性和50名中国维吾尔族健康绝经后女性的Bsm I限制性内切酶多态性。使用哈迪-温伯格平衡公式计算VDR的基因型频率。
在汉族人群中,bb、Bb和BB基因型分别占91.36%、8.64%和0%。在维吾尔族人群中,频率分别为74.00%、18.00%和8.00%。
汉族和维吾尔族人群VDR基因型频率分布存在显著差异(P<0.01)。与美国、澳大利亚和法国的白种人群相比,维吾尔族人群的BB基因型频率与之相似。本研究为不同种族骨质疏松症的不同病因学提供了进一步的证据。