Department of Histology and Embriology, Medical University of Silesia, Zabrze, Poland.
Department of General Pharmacology and Pharmacoeconomics, Pomeranian Medical University, Szczecin, Poland; Department of Stem Cells and Regenerative Medicine, Institute of Natural Fibres and Medicinal Plants, Poznan, Poland.
Arch Med Res. 2015 Apr;46(3):173-80. doi: 10.1016/j.arcmed.2015.03.012. Epub 2015 May 14.
Recognition of different genetic variants underlying development of osteoporosis would make it possible to administer individual symptomatic treatment as well as early prophylactics of osteoporosis. The aim of the study was to evaluate frequency of polymorphism 326A/T of gene ITLN-1 and assessment of its relations with the clinical parameters of osseous turnover and degree of postmenopausal osteoporosis.
The study included 800 women at the postmenopausal (505) and reproductive (295) age throughout Wielkopolska region in Poland. The postmenopausal group included women with osteoporosis and osteopenia and the healthy ones. Women at the reproductive age were healthy. Frequency of the tested gene polymorphism was evaluated in the group where BMD was marked and in the control group.
The analysis of the polymorphism A326T of gene ITLN-1 showed that in healthy postmenopausal female with genotype AA birth weight, BMD L2-L4 YA (%) and BMD L2-L4 AM (%) were significantly higher (BMD-bone mineral density; L2-L4-- lumbar vertebrae no 2, 4; YA--peak adult bone mass; AM--age-matched bone mass). In women with osteopenia BMD L2-L4 YA (%) and BMD L2-L4 AM (%) were significantly higher in women with genotype AA, but BMD L2-L4 was significantly higher in women with genotype TT. In women with osteoporosis with genotype AA T-score was significantly higher, but BMD L2-L4 and BMD L2-L4 YA (%) were significantly lower in this group. BMD L2-L4 AM (%) was significantly higher in women with AA genotype.
In women with osteoporosis and osteopenia homozygous AA genotype may predispose to lower BMD in the lumbar spine.
认识骨质疏松症发病的不同遗传变异，将有可能进行个体化对症治疗和早期骨质疏松症预防。本研究旨在评估 ITLN-1 基因 326A/T 多态性的频率，并评估其与骨转换的临床参数和绝经后骨质疏松症程度的关系。
本研究纳入了波兰大波兰地区 800 名绝经后（505 名）和生殖期（295 名）女性。绝经后组包括骨质疏松症和骨量减少患者及健康女性。生殖期女性均健康。在 BMD 标记的组和对照组中评估了所测试基因多态性的频率。
分析 ITLN-1 基因 A326T 多态性发现，在健康的绝经后女性中，AA 基因型的出生体重、L2-L4 YA（%）和 L2-L4 AM（%）BMD 显著更高（BMD-骨矿物质密度；L2-L4-腰椎 2、4；YA-峰值成人骨量；AM-年龄匹配骨量）。在骨量减少的女性中，AA 基因型的 L2-L4 YA（%）和 L2-L4 AM（%）BMD 显著更高，但 L2-L4 BMD 显著更高。AA 基因型的 T 评分显著更高，但 L2-L4 和 L2-L4 YA（%）BMD 显著更低。AA 基因型的 L2-L4 AM（%）BMD 显著更高。
在骨质疏松症和骨量减少的女性中，AA 纯合基因型可能导致腰椎 BMD 降低。
