EFFECTS OF VARIATIONS IN BONE METABOLISM RELATED GENES ON BONE MINERAL DENSITY OF PATIENTS WITH OSTEOPOROSIS


Güler A. M., Emrence Z., Bozdağ E. N., Paçal F., Abacı N., Tanakol R., ...Daha Fazla

ACTA ENDOCRINOLOGICA-BUCHAREST, cilt.20, sa.4, ss.413-421, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 4
  • Basım Tarihi: 2024
  • Doi Numarası: 10.4183/aeb.2024.413
  • Dergi Adı: ACTA ENDOCRINOLOGICA-BUCHAREST
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.413-421
  • İstanbul Üniversitesi Adresli: Evet

Özet

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 (PCR-RFLP) analysis.
Results. Our analysis revealed that the CT and TT genotype for rs 1800587 in ILIA was associated with higher bone mineral density in the lumbar spine, trochanter, Ward's triangle, and femoral neck ( p = 0.02 , p = 0.021 p = 0.015 and p = 0.013 respectively). The rs1800587 variation in ILIA 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
rs 1800587 variation in ILIA gene is associated with a significantly decreased risk of osteoporosis in the Turkish population.