October - December 2024, Volume 20, Issue 4

Guler AM, Emrence Z, Bozdag EN, Pacal F, Abaci N, Tanakol R, Ekmekci SS

Effects of Variations in Bone Metabolism Related Genes on Bone Mineral Density of Patients with Osteoporosis

Acta Endo (Buc) 2024, 20 (4): 413-421
doi: 10.4183/aeb.2024.413

Objective. Osteoporosis is a complex disease and its development is influenced by genetic, epigenetic, metabolic, and environmental factors. However, specific genetic factors associated with osteoporosis are not fully understood. The aim of this study was to identify genetic risk factors for osteoporosis. Methods. This study included 86 females with osteoporosis and 47 healthy females. We analyzed rs1800587, rs16944, rs1799814, rs4988321, rs2228570, and rs35211496 variations in IL1A, IL1B, CYP1A1, LRP5, VDR, and RANK, respectively, using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) analysis. Results. Our analysis revealed that the CT and TT genotype for rs1800587 in IL1A was associated with higher bone mineral density in the lumbar spine, trochanter, Ward's triangle, and femoral neck (p=0.020, p=0.021, p=0.015, and p=0.013, respectively). The rs1800587 variation in IL1A was associated with a reduced risk of osteoporosis in both dominant and codominant inheritance models (CC vs. CT, p=0.016 and CC vs. CT/TT, p=0.035, respectively). However, we did not identify any statistically significant differences in either genotype or allele frequencies between the control group and the patients with osteoporosis for the other genetic variations examined. Conclusion. Our findings suggest that the rs1800587 variation in IL1A gene is associated with a significantly decreased risk of osteoporosis in the Turkish population.

Keywords: Osteoporosis, interleukin 1alpha, gene variation, bone mineral density.

Correspondence: Sema Sirma Ekmekci, PhD, Istanbul Universitesi, Aziz Sancar Detae, Vakif Gureba Cad. Sehremini, Fatih, Istanbul, 34093, Turkiye, E-mail: sirmasem@istanbul.edu.tr