Falcón-Ramírez Edith, Hidalgo-Bravo Alberto, Barredo-Prieto Blanca Alicia, Pineda-Gómez Ernesto, Valdés-Flores Margarita
Departamento de Genética, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco No. 289, Arenal de Guadalupe, Tlalpan, 14389, Mexico City, Mexico.
Servicio de Traumatología, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
Aging Clin Exp Res. 2016 Jun;28(3):567-71. doi: 10.1007/s40520-015-0449-6. Epub 2015 Sep 30.
Osteoporosis leads to high fracture risk and evidence suggests that genetic factors play an important role in this disease. The aim was to evaluate the association of two polymorphisms (-1997G/T, +1245G/T) in the collagen type1 alpha 1 gene (COL1A1) with fracture or with low bone mineral density (BMD) at the hip in postmenopausal Mexican women.
BMD was determined by bone densitometry and the risk factors were collected with a questionnaire. Genotyping was performed by real-time PCR.
The polymorphisms were in Hardy-Weinberg equilibrium. The -1997G/+1245T haplotype showed, after adjustment for confounders, a fourfold increased risk of hip fracture [OR 4.32; p = 0.041 (95 % CI 1.07-17.43)]; while in the women with low BMD at the hip, the risk was increased threefold [OR 3.36; p = 0.022 (95 % CI 1.20-9.40)].
The results support the association of COL1A1 gene polymorphisms with fracture and with low BMD at the hip in Mexican population.
骨质疏松症会导致骨折风险升高，且有证据表明遗传因素在该疾病中起着重要作用。本研究旨在评估绝经后墨西哥女性中，1型胶原蛋白α1基因（COL1A1）的两种多态性（-1997G/T、+1245G/T）与骨折或髋部低骨密度（BMD）之间的关联。
通过骨密度测定法确定骨密度，并通过问卷调查收集风险因素。采用实时聚合酶链反应进行基因分型。
这些多态性处于哈迪-温伯格平衡状态。在对混杂因素进行校正后，-1997G/+1245T单倍型显示髋部骨折风险增加了四倍[比值比（OR）4.32；p = 0.041（95%置信区间1.07 - 17.43）]；而在髋部骨密度低的女性中，风险增加了三倍[OR 3.36；p = 0.022（95%置信区间1.20 - 9.40）]。
研究结果支持COL1A1基因多态性与墨西哥人群的骨折及髋部低骨密度之间存在关联。
