Division of Molecular Genetics, Department of Human Genetics, Punjabi University, Patiala 147002, India.
Aggarwal Orthopedic Hospital, Ludhiana 141001, India.
Int J Environ Res Public Health. 2021 Jan 22;18(3):972. doi: 10.3390/ijerph18030972.
The present study aimed to examine the participation and contribution of endothelial nitric oxide synthase (), angiotensin converting enzyme () and vascular endothelial growth factor () genes for the risk of endothelial dysfunction (ED)-associated osteoporosis risk in postmenopausal women of Punjab, India. Women with ED were categorized into women with osteoporosis (n = 346) and women without osteoporosis (n = 330). They were examined for selected SNPs within and genes. Linear regression analysis revealed a positive association of ED with bone mineral densities (BMDs) at femoral neck (r = 0.78, < 0.001) and lumbar spine (r = 0.24, = 0.001) after Bonferroni correction. Three susceptibility haplotypes were exposed within (CTAAAT), (ACDG) and (GATA) genes. Bearers of CTAAAT (OR 2.43, = 0.007), ACDG (OR 2.50, = 0.002) and GATA (OR 2.10, = 0.009) had substantial impact for osteoporosis after correcting the effects with traditional risk factors (TRD).With uncertainty measure () and Akaike information criterion (AIC), best fit models showed that CTAAAT manifested in multiplicative mode (β ± SE: 2.19 ± 0.86, < 0.001), whereas ACDG (β ± SE: 1.73 ± 0.54, = 0.001) and GATA (β ± SE: 3.07 ± 0.81, < 0.001) expressed in dominant modes. Area under receiver operating characteristic curve using weighted risk scores (effect estimates) showed substantial strength for model comprising TRD + GATA (AUC = 0.8, < 0.001) whereas, model comprising TRD + GATA + CTAAAT exhibited excellent ability to predict osteoporosis (AUC = 0.824, < 0.001).
本研究旨在探讨内皮型一氧化氮合酶（）、血管紧张素转换酶（）和血管内皮生长因子（）基因在印度旁遮普邦绝经后妇女内皮功能障碍（ED）相关骨质疏松风险中的作用。将 ED 妇女分为骨质疏松（n=346）和非骨质疏松（n=330）妇女。检查了和基因内选定的 SNPs。线性回归分析显示，ED 与股骨颈（r=0.78， < 0.001）和腰椎（r=0.24， = 0.001）的骨矿物质密度（BMD）呈正相关，经 Bonferroni 校正后。在基因内发现了三个易感单倍型（CTAAAT）、（ACDG）和（GATA）。携带 CTAAAT（OR 2.43， = 0.007）、ACDG（OR 2.50， = 0.002）和 GATA（OR 2.10， = 0.009）的人在传统危险因素（TRD）校正后对骨质疏松有显著影响。不确定性度量（）和赤池信息量准则（AIC）表明，最佳拟合模型显示 CTAAAT 呈乘法模式（β±SE：2.19±0.86， < 0.001），而 ACDG（β±SE：1.73±0.54， = 0.001）和 GATA（β±SE：3.07±0.81， < 0.001）呈显性模式。使用加权风险评分（效应估计值）的接收器工作特征曲线下面积表明，包含 TRD+GATA 的模型具有相当大的强度（AUC=0.8， < 0.001），而包含 TRD+GATA+CTAAAT 的模型具有预测骨质疏松的优异能力（AUC=0.824， < 0.001）。
