Hajar Eftekhari1, Seyyed Reza Hosseini2, Hadis Pourreza Baboli3, Maryam Mafi Golchin1, Laleh Heidari4, Zeinab Abedian5, Roghayeh Pourbagher5, Fatemeh Amjadi-Moheb6, Seyyedeh Narges Mousavi Kani7, Hajighorban Nooreddini8, Haleh Akhavan-Niaki9. 1. Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran; Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. 2. Social Determinants of Health (SDH) Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. 3. Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran. 4. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 5. Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. 6. Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran. 7. Department of Pharmacology, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran. 8. Department of Radiology, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran. 9. Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran; Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran; Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran. Electronic address: halehakhavan@yahoo.com.
Abstract
BACKGROUND: Osteoporosis is a multifactorial disease with a strong genetic influence. Recent studies have demonstrated that cytokines, such as TGF-β1 and interleukin 6 (IL-6) play complex roles in the normal bone metabolism and pathophysiology of osteoporosis. Here, we investigated the roles of 2 polymorphisms mapping to the promoters of TGF-β1and IL-6 genes on the genetic susceptibility to osteoporosis as well as calcium and vitamin D levels. METHODS: A cohort of 297 elderly participants in northern Iran comprising 181 osteoporotic patients (mean age ± SD, 68.36 ± 7.21 years) and 116 unrelated healthy controls (mean age ± SD, 64 ± 5.44 years) was studied for TGF-β1(C-509T) and IL-6 (G-634C) polymorphisms using PCR-RFLP method. RESULTS: A significant relationship was observed between calcium level and IL-6 genotypes in osteoporotic males (P = 0.011) and females (P = 0.020). No significant differences were observed between osteoporotic and control groups with respect to allele frequency or genotype distribution based on the 2 selected polymorphisms under different genetic models. The results remained the same after comparing the BMD values of either the femur neck or lumbar spine with the genotypes of the elderly men and women when analyzed separately. CONCLUSION: IL-6 genotype influences serum calcium levels in osteoporotic patients. The lack of association between the common genetic variations of TGF-β1 and IL-6 genes, and BMD highlights the complex genetic background of osteoporosis in the north of Iran.
BACKGROUND:Osteoporosis is a multifactorial disease with a strong genetic influence. Recent studies have demonstrated that cytokines, such as TGF-β1 and interleukin 6 (IL-6) play complex roles in the normal bone metabolism and pathophysiology of osteoporosis. Here, we investigated the roles of 2 polymorphisms mapping to the promoters of TGF-β1and IL-6 genes on the genetic susceptibility to osteoporosis as well as calcium and vitamin D levels. METHODS: A cohort of 297 elderly participants in northern Iran comprising 181 osteoporoticpatients (mean age ± SD, 68.36 ± 7.21 years) and 116 unrelated healthy controls (mean age ± SD, 64 ± 5.44 years) was studied for TGF-β1(C-509T) and IL-6 (G-634C) polymorphisms using PCR-RFLP method. RESULTS: A significant relationship was observed between calcium level and IL-6 genotypes in osteoporotic males (P = 0.011) and females (P = 0.020). No significant differences were observed between osteoporotic and control groups with respect to allele frequency or genotype distribution based on the 2 selected polymorphisms under different genetic models. The results remained the same after comparing the BMD values of either the femur neck or lumbar spine with the genotypes of the elderly men and women when analyzed separately. CONCLUSION:IL-6 genotype influences serum calcium levels in osteoporoticpatients. The lack of association between the common genetic variations of TGF-β1 and IL-6 genes, and BMD highlights the complex genetic background of osteoporosis in the north of Iran.