Laboratory of Human Genetics, Institute of Genetics and Cytology of the National Academy of Sciences of Belarus, 220072 Minsk, Belarus.
Department of General Biology and Genetics, International Sakharov Environmental Institute of the Belarusian State University, 220070 Minsk, Belarus.
Nutrients. 2021 Mar 4;13(3):837. doi: 10.3390/nu13030837.
Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the gene. gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women.
The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine gene variants.
Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, = 0.0001) and decreased BMD (A-T-G, -0.09 g/cm, = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm, = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state.
Our novel data on the relationship between gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.
揭示维生素 D 受体(VDR)基因 ApaI rs7975232、BsmI rs1544410、TaqI rs731236、FokI rs2228570 和 Cdx2 rs11568820 变体对骨矿物质密度(BMD)、25-羟维生素 D 水平和白俄罗斯妇女骨质疏松症(OP)风险的影响。
病例组包括 355 例绝经后 OP 妇女,对照组包括 247 例符合纳入标准的妇女。使用 TaqMan 基因分型检测确定 VDR 基因变异。
rs7975232 A/A、rs1544410 T/T 和 rs731236 G/G 单变体及其 A-T-G 单倍型与增加 OP 风险(对于 A-T-G,OR = 1.8, = 0.0001)和降低 BMD(A-T-G,-0.09 g/cm, = 0.0001)显著相关。rs11568820 A-等位基因对 BMD 有保护作用(+0.22 g/cm, = 0.027)。rs1544410、rs731236 和 rs11568820 基因型与 25(OH)D 存在显著剂量效应。rs731236 A/A 与 25(OH)D 缺乏状态相关。
我们关于 VDR 基因变异与 BMD、25(OH)D 水平和 OP 风险之间关系的新数据强调了遗传标志物对于个体化医学策略的重要性。