Uzun Naim, Kiziltunc Ahmet, Keskin Adem
Agri Ibrahim Cecen University, Faculty of Pharmacy, Department of Clinical Pharmacy, Department of Pharmacy Vocational Sciences - Ağrı, Turkey.
Ataturk University, Faculty of Medicine, Department of Medical Biochemistry, Department of Basic Medical Sciences - Erzurum, Turkey.
Rev Assoc Med Bras (1992). 2025 May 2;71(3):e20241624. doi: 10.1590/1806-9282.20241624. eCollection 2025.
Bone mineral density is affected by many gene regions. Osteoporosis is a disease that occurs due to decreased bone mineral density and has a polygenetic multifactorial pathogenesis. The aim of this study was to examine the effect of gene variants in eight gene regions related to bone mineral density in patients diagnosed with osteopenia or osteoporosis.
A total of 60 patients diagnosed with osteoporosis, 50 patients diagnosed with osteopenia, and 40 healthy volunteers (control group) were included in the study. Collagen type I alpha 1 1997G/T, estrogen receptor α PvuII, estrogen receptor α XbaI, vitamin D receptor BsmI, lactase gene, osteoprotegerin G209A, osteoprotegerin T245G, and interleukin-6 G174C gene variants were analyzed.
No important difference was found in the distribution of collagen type I alpha 1 1997G/T, estrogen receptor α PvuII, estrogen receptor α XbaI, vitamin D receptor BsmI, lactase gene T13910C, osteoprotegerin T245G, and interleukin-6 G174C gene variants between groups. A significant difference was detected between the distribution of osteoprotegerin G209A gene variants in the patient groups and the distribution of osteoprotegerin G209A gene variants in the control group. On the other hand, no important difference was detected in the distribution of osteoprotegerin G209A gene variants between patient groups.
The osteoprotegerin G209A gene variant may be associated with the risk of osteopenia and osteoporosis in the Turkish population. Other gene variants analyzed that affect bone mineral density were not associated with the risk of osteopenia and osteoporosis.
骨矿物质密度受许多基因区域影响。骨质疏松症是一种因骨矿物质密度降低而发生的疾病，具有多基因多因素发病机制。本研究的目的是检测与骨矿物质密度相关的八个基因区域的基因变异对诊断为骨质减少或骨质疏松症患者的影响。
本研究共纳入60例诊断为骨质疏松症的患者、50例诊断为骨质减少的患者和40名健康志愿者（对照组）。分析了I型胶原α1 1997G/T、雌激素受体α PvuII、雌激素受体α XbaI、维生素D受体BsmI、乳糖酶基因、骨保护素G209A、骨保护素T245G和白细胞介素-6 G174C基因变异。
I型胶原α1 1997G/T、雌激素受体α PvuII、雌激素受体α XbaI、维生素D受体BsmI、乳糖酶基因T13910C、骨保护素T245G和白细胞介素-6 G174C基因变异在各组间的分布未发现显著差异。患者组骨保护素G209A基因变异的分布与对照组骨保护素G209A基因变异的分布存在显著差异。另一方面，患者组间骨保护素G209A基因变异的分布未发现显著差异。
骨保护素G209A基因变异可能与土耳其人群骨质减少和骨质疏松症的风险相关。分析的其他影响骨矿物质密度的基因变异与骨质减少和骨质疏松症的风险无关。
