Sara Hanaei1,2, Sina Abdollahzade3, Maryam Sadr4, Ehsan Fattahi5, Mohammad Hossein Mirbolouk5, Alireza Khoshnevisan5, Nima Rezaei1,2,6. 1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 2. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. 3. Division of neurosurgery, Department of surgery, Rajayi Hospital, Qazvin university of medical sciences, Qazvin, Iran. 4. Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran. 5. Department of Neurosurgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. 6. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Abstract
BACKGROUND: Collagens are the main components of the extracellular matrix of intervertebral discs. The genetic mutations in collagen genes could potentially play a causal role in pathophysiology of intervertebral disc degeneration (IVDD). In this study, we investigate the association of COL1A1 and COL9A2 single nucleotide polymorphisms (SNPs) with IVDD. MATERIAL AND METHODS: ninety-six Iranian IVDD patients and 94 controls matched for age and sex were included. 5 cc of peripheral blood samples were obtained for DNA extraction using the Phenol-Chloroform method. The primers for SNPs COL1A1 rs909102 and COL9A2 were designed based on the TaqMan protocol and genotyped by real-time PCR with TaqMan. RESULTS: The 'T' allele, 'CC' and 'TT' genotypes of COL1A1 rs909102 were more common among patients, however not significantly. Despite the similar allele distribution of COL9A2 rs137853213 in patients and controls, the homozygote genotypes were more frequent among patients, though this was not significant either. CONCLUSION: The allele and genotype distributions of COL1A1 rs909102 and COL9A2 rs137853213 SNPs were not significantly associated with IVDD in an Iranian population.
BACKGROUND: Collagens are the main components of the extracellular matrix of intervertebral discs. The genetic mutations in collagen genes could potentially play a causal role in pathophysiology of intervertebral disc degeneration (IVDD). In this study, we investigate the association of COL1A1 and COL9A2 single nucleotide polymorphisms (SNPs) with IVDD. MATERIAL AND METHODS: ninety-six Iranian IVDD patients and 94 controls matched for age and sex were included. 5 cc of peripheral blood samples were obtained for DNA extraction using the Phenol-Chloroform method. The primers for SNPs COL1A1 rs909102 and COL9A2 were designed based on the TaqMan protocol and genotyped by real-time PCR with TaqMan. RESULTS: The 'T' allele, 'CC' and 'TT' genotypes of COL1A1 rs909102 were more common among patients, however not significantly. Despite the similar allele distribution of COL9A2 rs137853213 in patients and controls, the homozygote genotypes were more frequent among patients, though this was not significant either. CONCLUSION: The allele and genotype distributions of COL1A1 rs909102 and COL9A2 rs137853213 SNPs were not significantly associated with IVDD in an Iranian population.
Entities:
Keywords:
Single nucleotide polymorphisms; collagen; intervertebral disc degeneration
Authors: Vera V Trefilova; Natalia A Shnayder; Marina M Petrova; Daria S Kaskaeva; Olga V Tutynina; Kirill V Petrov; Tatiana E Popova; Olga V Balberova; German V Medvedev; Regina F Nasyrova Journal: Biomolecules Date: 2021-08-26