Sina Abdollahzade1, Sara Hanaei2, Maryam Sadr3, Mohammad Hossein Mirbolouk4, Ehsan Fattahi4, Nima Rezaei5, Alireza Khoshnevisan6. 1. Division of Neurosurgery, Department of Surgery, Rajayi Hospital, Qazvin University of Medical Sciences, Qazvin, Iran. 2. Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. 3. Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran. 4. Department of Neurosurgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 5. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir. 6. Department of Neurosurgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: akhoshnevisan@sina.tums.ac.ir.
Abstract
OBJECTIVES: As the important role of inflammation in pathophysiology of intervertebral disc degeneration and inconsistency regarding the role of pro-inflammatory cytokine genes SNPs, the current case-control study was designed to assess this in Iranian population. PATIENTS AND METHODS: The genomic DNA of peripheral leukocytes of 76 patients and 140 healthy controls were investigated to sequence 9 SNPs of pro-inflammatory cytokine genes of interleukin 1 (IL-1), interleukin 6 (IL-6), and Tumor Necrosis Factor α (TNF-α) family. RESULTS: 'GA' and 'GG' genotype of TNF-α -308 G/A SNP were significantly associated with IVDD. While 'GA' was 1.93 times more frequent in patients, the 'GG' genotype was more common among healthy subjects (OR = 0.51, P = 0.03). The 'G' allele of TNF-α -238 G/A was 2.51 times more common in IVDD patients while the 'A' genotype was more frequent in controls with odds ratio of 0.39 (P = 0.001). Interestingly, the homozygote 'GG' genotype was 2.98 times more prevalent in patients (P = 0.001) while the 'GA' heterozygote genotype was more common in healthy individuals (OR = 0.34). The other investigated SNPs were not significantly associated with disease in this study population. CONCLUSION: Polymorphisms of pro-inflammatory cytokine genes could take part in IVDD pathophysiology as the result of alteration in their expression levels or structures. The current study indicated significant roles of TNF-α -308 G/A and TNF-α -238 G/A SNPs with IVDD among Iranian patients. However, this study did not show any significant association between IVDD and either of SNPs of IL-1 and IL-6 genes.
OBJECTIVES: As the important role of inflammation in pathophysiology of intervertebral disc degeneration and inconsistency regarding the role of pro-inflammatory cytokine genes SNPs, the current case-control study was designed to assess this in Iranian population. PATIENTS AND METHODS: The genomic DNA of peripheral leukocytes of 76 patients and 140 healthy controls were investigated to sequence 9 SNPs of pro-inflammatory cytokine genes of interleukin 1 (IL-1), interleukin 6 (IL-6), and Tumor Necrosis Factor α (TNF-α) family. RESULTS: 'GA' and 'GG' genotype of TNF-α -308 G/A SNP were significantly associated with IVDD. While 'GA' was 1.93 times more frequent in patients, the 'GG' genotype was more common among healthy subjects (OR = 0.51, P = 0.03). The 'G' allele of TNF-α -238 G/A was 2.51 times more common in IVDD patients while the 'A' genotype was more frequent in controls with odds ratio of 0.39 (P = 0.001). Interestingly, the homozygote 'GG' genotype was 2.98 times more prevalent in patients (P = 0.001) while the 'GA' heterozygote genotype was more common in healthy individuals (OR = 0.34). The other investigated SNPs were not significantly associated with disease in this study population. CONCLUSION: Polymorphisms of pro-inflammatory cytokine genes could take part in IVDD pathophysiology as the result of alteration in their expression levels or structures. The current study indicated significant roles of TNF-α -308 G/A and TNF-α -238 G/A SNPs with IVDD among Iranian patients. However, this study did not show any significant association between IVDD and either of SNPs of IL-1 and IL-6 genes.
Authors: Sara Hanaei; Sina Abdollahzade; Maryam Sadr; Mohammad Hossein Mirbolouk; Ehsan Fattahi; Alireza Khoshnevisan; Nima Rezaei Journal: BMC Med Genet Date: 2020-07-03 Impact factor: 2.103