Mesmar Moh'd, Kanan Raed M
Department of Orthopedics/Medical School, Jordan University of Science and Technology, Amman, Jordan.
Genet Test Mol Biomarkers. 2009 Oct;13(5):603-9. doi: 10.1089/gtmb.2009.0042.
The genetics of osteoporosis has been extensively studied over the last 20 years. Many of the studies have been aimed at identifying possible risk factors and possible association with low bone mineral density (BMD). Vitamin D receptor (VDR) and estrogen receptor (ER) gene polymorphisms were the first to be studied. Some studies have shown a possible association for individual VDR and ER or combined VDR and ER genotypes in some populations, and others showed lack of such an association. This study is aiming at identification of a possible association with low BMD in Jordanian postmenopausal women. We used restriction fragment length polymorphisms (RFLPs) to study four polymorphisms in the VDR gene and two polymorphisms in the ER gene. Our sample was composed of 100 normal controls and 120 samples from patients with symptomatic vertebral fractures. The results showed a possible association of the ppxx genotype with low BMD in controls and patients and an association of the AaBbTT genotype with high BMD in control subjects. The AABBTT, AABBTTFF, and AABBTTFFPPXX genotypes showed a possible association with low BMD in patients. Further studies are needed to confirm the last finding since it could be an important predictor of low BMD in the Jordanian population.
在过去20年里,骨质疏松症的遗传学得到了广泛研究。许多研究旨在确定可能的风险因素以及与低骨密度(BMD)的可能关联。维生素D受体(VDR)和雌激素受体(ER)基因多态性是最早被研究的。一些研究表明,在某些人群中,个体VDR和ER或VDR与ER组合基因型可能存在关联,而其他研究则显示不存在这种关联。本研究旨在确定约旦绝经后女性中低骨密度的可能关联。我们使用限制性片段长度多态性(RFLP)来研究VDR基因中的四种多态性和ER基因中的两种多态性。我们的样本由100名正常对照和120名有症状椎体骨折患者的样本组成。结果显示,ppxx基因型在对照和患者中与低骨密度可能存在关联,AaBbTT基因型在对照受试者中与高骨密度存在关联。AABBTT、AABBTTFF和AABBTTFFPPXX基因型在患者中与低骨密度可能存在关联。由于这可能是约旦人群中低骨密度的重要预测指标,因此需要进一步研究来证实这一发现。