Department of Pharmacology and Phytochemistry, Institute of Natural Fibres and Medicinal Plants, Kolejowa 2, 62-064, Plewiska, Poland.
Department of Orthopaedics and Traumatology, Independent Public Clinical Hospital No. 1, Pomeranian Medical University in Szczecin, Unii Lubelskiej 1, 71-252, Szczecin, Poland.
Sci Rep. 2021 Aug 30;11(1):17385. doi: 10.1038/s41598-021-96429-x.
The UDP-glucuronosyltransferase 1A1 (UGT1A1) is involved in the process of estrogen conjugation and elimination. The aim of the study was to analyze whether the UGT1A1 genetic variants are associated with the development of osteopenia and osteoporosis in postmenopausal women. The analysis of the rs4148323 (UGT1A16) and rs3064744 (UGT1A128) variants in the UGT1A1 gene was conducted using real-time PCR. A significant correlation was observed between the genotypes of the rs3064744 (UGT1A1*28) sequence variant and body mass in women with osteoporosis. The analysis of the Z-score values revealed that women with osteoporosis and carrying the 6/6 variant had the lowest Z-score values as compared to women with the 6/7 and the 7/7 variants (- 1.966 ± 0.242 vs. - 1.577 ± 0.125 and - 1.839 ± 0.233). In addition, the odds ratio for the investigated genotypes (6/6, 6/7, 7/7) indicated an increased risk for osteopenia and osteoporosis in women with the 7/7 homozygous genotype. The analysis of the frequencies of the GG, GA and AA genotypes of the rs4148323 UGT1A1 gene showed no statistically significant differences between the groups. Our analysis revealed that the UGT1A1 rs3064744 variant may affect the risk of developing osteoporosis in postmenopausal Polish women. The UGT1A1 rs4148323 variant is not directly associated with the development of osteopenia and osteoporosis.
UDP-葡萄糖醛酸基转移酶 1A1(UGT1A1)参与雌激素结合和消除过程。本研究旨在分析 UGT1A1 基因的遗传变异是否与绝经后妇女骨质疏松症的发生有关。使用实时 PCR 分析 UGT1A1 基因中的 rs4148323(UGT1A16)和 rs3064744(UGT1A128)变体。rs3064744(UGT1A1*28)序列变体的基因型与骨质疏松症女性的体重之间存在显著相关性。对 Z 评分值的分析表明,与携带 6/7 和 7/7 变体的女性相比,患有骨质疏松症且携带 6/6 变体的女性的 Z 评分值最低(-1.966±0.242 vs. -1.577±0.125 和-1.839±0.233)。此外,所研究基因型(6/6、6/7、7/7)的比值比表明,7/7 纯合基因型的女性骨质疏松症和骨量减少的风险增加。rs4148323 UGT1A1 基因的 GG、GA 和 AA 基因型的频率分析显示,各组之间无统计学差异。我们的分析表明,UGT1A1 rs3064744 变体可能影响绝经后波兰女性骨质疏松症的发生风险。UGT1A1 rs4148323 变体与骨质疏松症和骨量减少的发展没有直接关系。