Zambrano-Morales Mariana, Borjas Lisbeth, Fernández Erika, Zabala William, de Romero Pilar, Pineda Lennie, Morales-Machín Alisandra
Cátedra de Bioquímica Clínica, Escuela de Bioanálisis, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
Invest Clin. 2008 Mar;49(1):29-38.
Osteoporosis (OP) is an important public issue affecting more than 150 millions all over the world, mainly post-menopausic women. Epidemiological studies have shown that the genetic factors could be involved in 80-90% of the bone mineral density variabiblity and therefore, related to the risk of OP manifestations. The vitamin D receptor (VRD) gene has been extensively studied, but its relationship with OP has been controversial. The aim of this investigation was to study the association of Bsm I, Apa I and Taq I VDR gene polymorphism with OP in 147 post-menopausic women; 71 with OP and 76 without the disease (control). The molecular gene analysis was performed using the polymerase chain reaction (PCR). The genotypes BB, AA, and tt were found in 56.33, 50.70 and 25.35% and in 21.05, 28.95 and 10.53% of OP patients and controls respectively. The haplotype BBAAtt was observed in 23.94% of OP patients and 5.26% of the controls. This haplotype was a risk factor for OP, since a odds ratio (OR) of 5.66 was found, while, haplotype BbaaTT was a protection factor (OR: 0.10). These findings support the association of the vitamin D receptor gene BBAAtt haplotype with OP.
骨质疏松症（OP）是一个重要的公共卫生问题，全球有超过1.5亿人受其影响，主要是绝经后女性。流行病学研究表明，遗传因素可能与80%-90%的骨密度变异性有关，因此与OP表现的风险相关。维生素D受体（VDR）基因已被广泛研究，但其与OP的关系一直存在争议。本研究的目的是研究147名绝经后女性中Bsm I、Apa I和Taq I VDR基因多态性与OP的关联；71例患有OP，76例无此病（对照）。使用聚合酶链反应（PCR）进行分子基因分析。分别在56.33%、50.70%和25.35%的OP患者以及21.05%、28.95%和10.53%的对照中发现了基因型BB、AA和tt。在23.94%的OP患者和5.26%的对照中观察到单倍型BBAAtt。该单倍型是OP的一个风险因素，因为发现优势比（OR）为5.66，而单倍型BbaaTT是一个保护因素（OR：0.10）。这些发现支持维生素D受体基因BBAAtt单倍型与OP的关联。
