Department of Orthopedics and Traumatology, Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Poland.
Laboratory of International Health, Department of Preventive Medicine, Poznan University of Medical Sciences, Poland.
Adv Clin Exp Med. 2019 Feb;28(2):179-184. doi: 10.17219/acem/79969.
Postmenopausal osteoporosis is the most common metabolic bone disease among women. The Wnt signaling pathway has been known to be the critical regulator of osteoblastogenesis. Alterations in this mechanism may have consequences for bone remodeling in humans.
The aim of the study was to evaluate the frequency of genotypes and alleles of single nucleotide polymorphism (SNP) rs4988321 and rs312009 of LRP5 in Polish postmenopausal women with osteopenia (n = 109) and osteoporosis (n = 333). Potential correlations between genetic polymorphisms, bone mineral density (BMD), risk for bone fractures, and other clinical parameters were analyzed.
Genomic DNA was extracted from the blood samples and the sequence polymorphisms of LRP5 gene were detected using real-time polymerase chain reaction (RT-PCR) methods with melting curve analysis. We also calculated the odds ratio (OR) for the LRP5 genotypes and the alleles. Then, we evaluated the effect of the LRP5 polymorphism on T-score, Z-score, L2L4AM, L2L4YA, L2L4BMD, body mass index (BMI), and other clinical parameters.
No statistically significant differences in the distribution of LRP5 rs312009 genotypes between the groups were observed. Furthermore, our findings indicate that there is no correlation between LRP5 genotypes and the clinical characteristics of women with osteopenia/osteoporosis. In contrast, there was an increased value of OR in heterozygotes for rs4988321, both in patients with osteopenia (OR = 1.47) and in those with osteoporosis (OR = 1.33). In our study, we were not able to calculate the OR parameter for the AA genotype due to its low prevalence in the population.
Our results suggest that the Val667Met LRP5 (rs312009) polymorphism may contribute to an elevated risk for fractures in postmenopausal Polish women.
绝经后骨质疏松症是女性中最常见的代谢性骨病。Wnt 信号通路已被证实是成骨细胞生成的关键调节因子。该机制的改变可能对人类的骨重建产生影响。
本研究旨在评估波兰绝经后骨质疏松症（n=333）和骨量减少（n=109）女性中 LRP5 单核苷酸多态性（SNP）rs4988321 和 rs312009 的基因型和等位基因频率。分析了遗传多态性与骨密度（BMD）、骨折风险和其他临床参数之间的潜在相关性。
从血液样本中提取基因组 DNA，使用实时聚合酶链反应（RT-PCR）方法结合熔解曲线分析检测 LRP5 基因的序列多态性。我们还计算了 LRP5 基因型和等位基因的比值比（OR）。然后，我们评估了 LRP5 多态性对 T 评分、Z 评分、L2L4AM、L2L4YA、L2L4BMD、体重指数（BMI）和其他临床参数的影响。
未观察到 LRP5 rs312009 基因型在两组间的分布有统计学差异。此外，我们的研究结果表明，LRP5 基因型与骨量减少/骨质疏松症女性的临床特征之间没有相关性。相反，在骨量减少患者（OR=1.47）和骨质疏松症患者（OR=1.33）中，rs4988321 的杂合子存在 OR 值升高的趋势。在我们的研究中，由于 AA 基因型在人群中的低发生率，我们无法计算 OR 参数。
我们的研究结果表明，LRP5（rs312009）Val667Met 多态性可能导致波兰绝经后女性骨折风险升高。
