Seremak-Mrozikiewicz Agnieszka, Drews Krzysztof, Mrozikiewicz Przemyslaw M, Bartkowiak-Wieczorek Joanna, Marcinkowska Michalina, Wawrzyniak Anna, Slomski Ryszard, Kalak Ryszard, Czerny Boguslaw, Horst-Sikorska Wanda
Division of Perinatology and Women's Diseases, Department of Perinatology and Gynecology, University of Medical Sciences, Poznan, Poland.
Neuro Endocrinol Lett. 2009;30(4):540-6.
Recently the significance of genetic traits, influencing hormonal and environmental factors, in susceptibility to osteopenia and osteoporosis development has been indicated. Much attention to the polymorphic variants of vitamin D receptor (VDR) gene was paid. The restriction polymorphisms in VDR gene could be involved in the modulation of vitamin D action and modulate the level of bone mineral density (BMD) and the risk to develop osteopenia and osteoporosis.
Total 321 postmenopausal women (mean age 63.26 +/- 8.90 years), including women with osteoporosis (163 patients) and osteopenia (95) have been compared to 63 women with normal t-score value. For detection of VDR polymorphisms PCR/RFLP (polymerase chain reaction/restriction fragment length polymorphism) assay have been used.
The frequency of BsmI, ApaI, and TaqI polymorphic variants of VDR gene detected in investigated groups was not statistically different. The slight, not significant tendency to prevalence of a allele (ApaI polymorphism) in the controls comparing to women with osteoporosis and osteopenia have been noted. Higher prevalence of homozygous TT genotype (TaqI polymorphism) the in the both groups with lower BMD value (47.9 : 49.5 vs. 34.9% in the controls) and higher prevalence of T allele in these both groups (65.9 : 68.4 vs. 57.9) was been also observed.
The presence of T allele of TaqI polymorphism could predict the higher risk to develop osteoporosis in postmenopausal woman; consequently t allele could have protective effect. The presence of A allele (ApaI polymprphism) seems to be weakly connected with osteoporosis susceptibility.
最近已表明,影响激素和环境因素的遗传特征在骨质减少和骨质疏松症发生易感性中的重要性。人们对维生素D受体(VDR)基因的多态性变体给予了很多关注。VDR基因中的限制性多态性可能参与维生素D作用的调节,并调节骨矿物质密度(BMD)水平以及发生骨质减少和骨质疏松症的风险。
总共321名绝经后女性(平均年龄63.26±8.90岁),包括骨质疏松症患者(163例)和骨质减少患者(95例),与63名t值正常的女性进行了比较。为检测VDR多态性,采用了聚合酶链反应/限制性片段长度多态性(PCR/RFLP)分析方法。
在研究组中检测到的VDR基因BsmI、ApaI和TaqI多态性变体的频率无统计学差异。与骨质疏松症和骨质减少症女性相比,对照组中a等位基因(ApaI多态性)的流行率有轻微但不显著的趋势。在两组BMD值较低的人群中,纯合子TT基因型(TaqI多态性)的流行率较高(47.9:49.5,而对照组为34.9%),并且这两组中T等位基因的流行率也较高(65.9:68.4,而对照组为57.9)。
TaqI多态性的T等位基因的存在可预测绝经后女性发生骨质疏松症的较高风险;因此,t等位基因可能具有保护作用。A等位基因(ApaI多态性)的存在似乎与骨质疏松症易感性的关联较弱。