Evaluation of the frequency of polymorphisms of Vitamin D receptor gene(VDR) as a risk factor in the etiology of disc degeneration

• Grant number: 13/00902-4
• Support Opportunities: Regular Research Grants
• Start date: June 01, 2013
• End date: May 31, 2015
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Luciano Miller Reis Rodrigues
• Grantee: Luciano Miller Reis Rodrigues
• Host Institution: Faculdade de Medicina do ABC (FMABC). Organização Social de Saúde. Fundação do ABC. Santo André , SP, Brazil
• Associated researchers: Bianca Alves Vieira Bianco

Abstract

The intervertebral disc is a fibrocartilaginous structure whose main function is to act as a buffer, transmitting compressive loads between the vertebral bodies. The process of disc degeneration is associated with several clinical conditions, including low back pain or sciatic pain (narrowing of the spinal canal in the lower back). Low back pain is one of the most common health problems in society, an important cause of disability, work absenteeism and use of health services. Approximately 50 to 80% of the population will have an episode of back pain during their lifetime. The intervertebral disc degeneration is considered as the main factor source of low back pain.Previously, disc degeneration was seen as a result of aging and mechanical insults, and prevention strategies were focused primarily on mechanical factors as the primary cause. Today disc degeneration is a condition seen as largely influenced by genetics associated with environmental factors, although these have less influence, also have an important role in disease etiology. Risk factors described in the literature include constitutional and environmental factors, such as occupational load, type of work (occupational vibration while driving), mental stress, smoking, height and weight, although the subject is controversial.Vitamin D is known as a hormone that regulates calcium homeostasis and bone mineralization. Most of the biological activities of vitamin D are mediated by a high-affinity receptor that acts as a transcription factor activated by ligand - receptor gene vitamin D (VDR). Genetic alterations in the VDR gene can lead to major defects in the gene activation affecting calcium metabolism, cell proliferation, immune function, etc., which can be explained by changes in protein conformation. Changes in gene sequence, such as polymorphisms, can occur in non-coding region of the gene (introns) affecting the level of gene expression, and thus protein levels and also in coding regions (exons) and lead to changes in the sequence of protein.Yuan et al (2010) observed a synergistic effect of the 5A allele polymorphism 6A5A/5A5A MMP-3 gene and allele polymorphism ApaI (AA / Aa) of the VDR gene and risk occupational disc degeneration. Eser et al (2010) also observed a positive association of polymorphisms FokI VDR gene and Tapi and disc degeneration.Little is known about the VDR gene polymorphisms and their implications for gene function. The single nucleotide polymorphisms - SNPs (Single Nucleotide Polymorphisms) in the human genome are common and often occur in specific genes involved in the genesis ¬ oped and susceptibility to human diseases.Thus, we hypothesized a possible relationship between VDR gene polymorphisms (bMSI - T1056C, ApaI - G1025-49T, TaqI - G1024 +283 A and FokI - T2C) and disc degeneration. Few studies have been conducted involving disc degeneration and the system of vitamin D and, to date, no studies in the Brazilian population. (AU)

Scientific publications

(6)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

VIEIRA, LUIZ ANGELO; DOS SANTOS, ALINE AMARO; PELUSO, CARLA; BARBOSA, CAIO PARENTE; BIANCO, BIANCA; REIS RODRIGUES, LUCIANO MILLER. Influence of lifestyle characteristics and VDR polymorphisms as risk factors for intervertebral disc degeneration: a case-control study. EUROPEAN JOURNAL OF MEDICAL RESEARCH, v. 23, FEB 21 2018. (13/00902-4)

PABALAN, NOEL; TABANGAY, LANI; JARJANAZI, HAMDI; VIEIRA, LUIZ ANGELO; DOS SANTOS, ALINE AMARO; BARBOSA, CAIO PARENTE; REIS RODRIGUES, LUCIANO MILLER; BIANCO, BIANCA. Association Between the FokI and ApaI Polymorphisms in the Vitamin D Receptor Gene and Intervertebral Disc Degeneration: A Systematic Review and Meta-Analysis. GENETIC TESTING AND MOLECULAR BIOMARKERS, v. 21, n. 1, p. 24-32, JAN 2017. (13/00902-4)

AMARO, ALINE; GUERRA, ANA BEATRIZ; DEFINO, MATHEUS PIPPA; VIEIRA, LUIZ ANGELO; PELUSO, CARLA; BIANCO, BIANCA; REIS RODRIGUES, LUCIANO MILLER. Vascular endothelial growth factor gene variations as a risk predictor in disc degeneration. Einstein (São Paulo), v. 15, n. 4, p. 403-408, OCT-DEC 2017. (13/00902-4)

FIGUEIREDO DA ROSA, FERNANDO WILLIAM; ISOLDI POHL, PEDRO HENRIQUE; AMARAL ANTONIO MADER, ANA MARIA; DE PAIVA, CARLA PELUSO; DOS SANTOS, ALINE AMARO; BIANCO, BIANCA; REIS RODRIGUES, LUCIANO MILLER. Histological analysis of the repair of dural lesions with silicone mesh in rats subjected to experimental lesions. Einstein (São Paulo), v. 13, n. 4, p. 567-573, OCT-DEC 2015. (13/00902-4)

VIEIRA, LUIZ ANGELO; DE MARCHI, PATRICIA LEME; DOS SANTOS, ALINE AMARO; CHRISTOFOLINI, DENISE MARIA; BARBOSA, CAIO PARENTE; AFFONSO FONSECA, FERNANDO LUIZ; BIANCO, BIANCA; RODRIGUES, LUCIANO MILLER R.. Analysis of FokI Polymorphism of Vitamin D Receptor Gene in Intervertebral Disc Degeneration. GENETIC TESTING AND MOLECULAR BIOMARKERS, v. 18, n. 9, p. 625-629, SEP 2014. (13/00902-4, 12/21886-4)

AMARO, ALINE; GUERRA, ANA BEATRIZ; DEFINO, MATHEUS PIPPA; VIEIRA, LUIZ ANGELO; PELUSO, CARLA; BIANCO, BIANCA; REIS RODRIGUES, LUCIANO MILLER. Vascular endothelial growth factor gene variations as a risk predictor in disc degeneration. Einstein (São Paulo), v. 15, n. 4, p. 6-pg., 2017-10-01. (13/00902-4)