1.Pharmacogenetics of Response to Bisphosphonate Treatment in Postmenopausal Osteoporosis: A Prospective Study
Sirin Akbulut AYTURK ; Ozden Ozyemisci TASKIRAN ; Ebru Koseoglu TOHMA ; Aylin Sepici DINCEL ; Nesrin DEMIRSOY ; Vesile SEPICI
Journal of Bone Metabolism 2025;32(1):21-30
Background:
This study aims to investigate the effect of genetic polymorphisms of vitamin D receptor (VDR), estrogen receptor 1 (ER1), and Col1a1 on the response to bisphosphonate (BP) therapy in women with postmenopausal osteoporosis (OP).
Methods:
Twenty-one women with postmenopausal OP who received alendronate, ibandronate, or zoledronic acid for one year were enrolled in this study. Bone mineral density (BMD) at the lumbar spine and femoral neck were assessed by dual energy X-ray absorptiometry at baseline and after 12 months. Serum osteocalcin levels were measured at baseline and after 12 months. Polymorphic sites of the genes encoding ER1, VDR and Col1a1 proteins were amplified by polymerase chain reaction and examined using restriction fragment length polymorphism. Response to BP treatment and change in osteocalcin levels were compared among women with different gene polymorphisms.
Results:
Ratio of responders to treatment regarding improvements in the BMD of lumbar spine and femoral neck was adequate in 76% and 62%, respectively. There was no significant difference in treatment response regarding BMD in either region or change in serum osteocalcin levels among different gene polymorphisms.
Conclusions
These findings did not support the potential role of VDR BsmI, Col1a1 Sp1, ER1 PvuII, or XbaI polymorphisms in predicting the response to BP therapy in women with postmenopausal OP. Further investigation with larger prospective studies is required.
2.Pharmacogenetics of Response to Bisphosphonate Treatment in Postmenopausal Osteoporosis: A Prospective Study
Sirin Akbulut AYTURK ; Ozden Ozyemisci TASKIRAN ; Ebru Koseoglu TOHMA ; Aylin Sepici DINCEL ; Nesrin DEMIRSOY ; Vesile SEPICI
Journal of Bone Metabolism 2025;32(1):21-30
Background:
This study aims to investigate the effect of genetic polymorphisms of vitamin D receptor (VDR), estrogen receptor 1 (ER1), and Col1a1 on the response to bisphosphonate (BP) therapy in women with postmenopausal osteoporosis (OP).
Methods:
Twenty-one women with postmenopausal OP who received alendronate, ibandronate, or zoledronic acid for one year were enrolled in this study. Bone mineral density (BMD) at the lumbar spine and femoral neck were assessed by dual energy X-ray absorptiometry at baseline and after 12 months. Serum osteocalcin levels were measured at baseline and after 12 months. Polymorphic sites of the genes encoding ER1, VDR and Col1a1 proteins were amplified by polymerase chain reaction and examined using restriction fragment length polymorphism. Response to BP treatment and change in osteocalcin levels were compared among women with different gene polymorphisms.
Results:
Ratio of responders to treatment regarding improvements in the BMD of lumbar spine and femoral neck was adequate in 76% and 62%, respectively. There was no significant difference in treatment response regarding BMD in either region or change in serum osteocalcin levels among different gene polymorphisms.
Conclusions
These findings did not support the potential role of VDR BsmI, Col1a1 Sp1, ER1 PvuII, or XbaI polymorphisms in predicting the response to BP therapy in women with postmenopausal OP. Further investigation with larger prospective studies is required.
3.Pharmacogenetics of Response to Bisphosphonate Treatment in Postmenopausal Osteoporosis: A Prospective Study
Sirin Akbulut AYTURK ; Ozden Ozyemisci TASKIRAN ; Ebru Koseoglu TOHMA ; Aylin Sepici DINCEL ; Nesrin DEMIRSOY ; Vesile SEPICI
Journal of Bone Metabolism 2025;32(1):21-30
Background:
This study aims to investigate the effect of genetic polymorphisms of vitamin D receptor (VDR), estrogen receptor 1 (ER1), and Col1a1 on the response to bisphosphonate (BP) therapy in women with postmenopausal osteoporosis (OP).
Methods:
Twenty-one women with postmenopausal OP who received alendronate, ibandronate, or zoledronic acid for one year were enrolled in this study. Bone mineral density (BMD) at the lumbar spine and femoral neck were assessed by dual energy X-ray absorptiometry at baseline and after 12 months. Serum osteocalcin levels were measured at baseline and after 12 months. Polymorphic sites of the genes encoding ER1, VDR and Col1a1 proteins were amplified by polymerase chain reaction and examined using restriction fragment length polymorphism. Response to BP treatment and change in osteocalcin levels were compared among women with different gene polymorphisms.
Results:
Ratio of responders to treatment regarding improvements in the BMD of lumbar spine and femoral neck was adequate in 76% and 62%, respectively. There was no significant difference in treatment response regarding BMD in either region or change in serum osteocalcin levels among different gene polymorphisms.
Conclusions
These findings did not support the potential role of VDR BsmI, Col1a1 Sp1, ER1 PvuII, or XbaI polymorphisms in predicting the response to BP therapy in women with postmenopausal OP. Further investigation with larger prospective studies is required.
4.Histopathological and biochemical findings of congenital copper deficiency: are these similar to those of caprine arthritis-encephalitis?.
I Ayhan OZKUL ; G ALCIGIR ; A SEPICI-DINCEL ; A D YONGUC ; A AKCORA ; J TURKASLAN
Journal of Veterinary Science 2012;13(1):107-109
This study was done after identifying animals with a twisted carpal joint in goat herd. These included a kid goat walking on its articulus carpii and a newborn goat with a stiff leg. Necropsies of the diseased goats revealed swollen carpal joints that were twisted backwards. Arthritis was observed during microscopic examination of the carpal joints. Very low levels of eosinophil, leucocyte, and lymphocyte cell infiltration were found in the central nervous system and meninges. Serum copper levels were significantly decreased in most of the animals. All of these results led us to diagnose the animals with swayback disease.
Animals
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Animals, Newborn
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Carpal Joints/metabolism/*pathology
;
Copper/blood/*deficiency/metabolism
;
Female
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Goat Diseases/*congenital/metabolism/pathology
;
Goats
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Joint Diseases/congenital/metabolism/pathology/*veterinary
;
Male
;
Pregnancy