Department of Orthopedics and Rehabilitation, Warsaw Medical University, Warsaw, Poland.
Department of Pediatrics with Clinical Assessment Unit, Warsaw Medical University, Warsaw, Poland.
Adv Exp Med Biol. 2019;1211:17-24. doi: 10.1007/5584_2019_413.
Osteoporosis is a disease with complex etiology where the genetic factors may account for as much as 50-85% of the risk of its development in postmenopausal women. The polymorphism of estrogen receptor genes (ESR1, ESR2) seems essential among the genetic factors. The goal of this study was to analyze polymorphisms of selected genes in a population of postmenopausal women treated for osteoporosis and to evaluate the influence of genetic and nongenetic factors on the estimated 10-year risk of fracture. The study group consisted of 214 women hospitalized for treatment of postmenopausal osteoporosis. We investigated the presence of ESR1, ESR2, LRP5, and WNT16 genetic polymorphisms and the risk of fracture in each woman. The main finding was that of significant differences in the polymorphisms of the WNT16 rs2908004 genetic variant, notably, the less frequent presence of TC allele in women with a greater risk of osteoporotic fractures. We conclude that the polymorphism of the WNT16 gene seems highly relevant in the pathogenesis of osteoporosis, which makes it a promising object for further research on the genetic background of fracture risk.
骨质疏松症是一种病因复杂的疾病，遗传因素可能占绝经后妇女发病风险的 50-85%。雌激素受体基因（ESR1、ESR2）的多态性似乎是遗传因素中至关重要的因素之一。本研究的目的是分析接受骨质疏松症治疗的绝经后妇女人群中选定基因的多态性，并评估遗传和非遗传因素对估计的 10 年骨折风险的影响。研究组包括 214 名因绝经后骨质疏松症住院治疗的女性。我们研究了 ESR1、ESR2、LRP5 和 WNT16 基因多态性的存在情况以及每位女性的骨折风险。主要发现是 WNT16 rs2908004 基因变异的多态性存在显著差异，尤其是 TC 等位基因在骨质疏松性骨折风险较高的女性中较少出现。我们得出结论，WNT16 基因的多态性似乎与骨质疏松症的发病机制密切相关，这使其成为骨折风险遗传背景进一步研究的有前途的对象。
