Department of Orthopedics and Traumatology, Independent Public Clinical Hospital No. 1, Pomeranian Medical University, Szczecin, Poland.
Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibers and Medicinal Plants, Plewiska, Poland.
Adv Clin Exp Med. 2019 Aug;28(8):1067-1071. doi: 10.17219/acem/103803.
The study included 675 unrelated women (109 women with osteopenia, 333 women with osteoporosis, and 233 healthy women). Genomic DNA was extracted from the blood samples and the CYP19A1 polymorphisms were determined using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Bone mineral density at the lumbar spine (L1-L4) was measured with dual energy X-ray absorptiometry (DEXA).
The analysis of the CYP19A1 rs749292 polymorphism showed that there were no statistically significant differences in the distribution of genotypes between the study groups with osteoporosis and osteopenia and the control group. However, it was noted that the GG genotype occurred more often in the group with osteopenia (35.8%; OR = 1.44) than in the control group (27.9%). Also, a difference was noted in the distribution of genotypes in women with osteoporosis. In addition, it can be assumed that the G allele may lead to an increased susceptibility to osteopenia and osteoporosis. The analysis of the CYP19A1 rs700518 polymorphism showed that heterozygotes were more common in the group with osteoporosis (58.3%) than in the control group (52.8%).
Our results suggest that the rs749292 polymorphism of the CYP19A1 gene may contribute to an elevated risk for fractures in postmenopausal Polish women.
本研究纳入了 675 名无血缘关系的女性（109 名骨质疏松症患者、333 名骨质疏松症患者和 233 名健康女性）。从血样中提取基因组 DNA，采用聚合酶链反应限制片段长度多态性（PCR-RFLP）方法检测 CYP19A1 多态性。采用双能 X 线吸收法（DEXA）测量腰椎（L1-L4）的骨密度。
对 CYP19A1 rs749292 多态性的分析表明，骨质疏松症和骨质减少症组与对照组之间的基因型分布无统计学差异。然而，值得注意的是，骨质减少症组中 GG 基因型的发生率更高（35.8%；OR=1.44），而对照组的发生率为 27.9%。此外，在骨质疏松症患者中还观察到基因型的分布存在差异。此外，可以假设 G 等位基因可能导致骨质减少症和骨质疏松症的易感性增加。对 CYP19A1 rs700518 多态性的分析表明，杂合子在骨质疏松症组中更为常见（58.3%），而在对照组中则更为常见（52.8%）。
我们的结果表明，CYP19A1 基因的 rs749292 多态性可能导致波兰绝经后女性骨折风险增加。
