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Vitamin D Receptor gene relationship to lower back pain – study funded June 2013

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

Principal Investigator: Luciano Miller Reis Rodrigues
Awardee: Luciano Miller Reis Rodrigues
Institution: Faculdade de Medicina do ABC. Organização Social de Saúde. Fundação do ABC. Santo André, SP, Brazil
Field of knowledge: Health Sciences - Medicine
Support type: Regular Research Awards
Grant number: 13/00902-4
Duration: June 01, 2013 - May 31, 2015

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)

See also VitaminDWiki