Abstract
BackgroundIntervertebral disc degeneration (IDD) is a musculoskeletal disorder and one of the major causes of low back pain leading to the disability with high economic repercussions worldwide. This study applied the candidategene approach to investigate the potential association of selected polymorphisms with IDD development in a Jordanian population.MethodsMRI-diagnosed IDD patients (N=155) and asymptomatic individuals as a control group (N=55). Whole blood samples for four variants in three genes (rs1800587 of IL-1α, rs1143634 of IL-1β and rs2228570 and rs731236 of VDR) were genotyped by PCR-RFLP.ResultsThere was no significant association between the studied polymorphisms or their allelic frequency and the occurrence of IDD. However, the cohort presented a significant reverse association between rs1143634 C > T of the IL-1β gene and the occurrence of IDD (p<0.0001). In addition, BMI showed a significant association with the IDD in the study population (p<0.005). The current study was conceptualized based on the candidate-gene approach to investigate the role of inflammatory and metabolic genes, IL and VDR, respectively, in the occurrence of IDD.ConclusionsWhile the data presented in this study showed that polymorphisms in these genes were not associated with IDD of the cohort investigated, elevated BMI, as a measure of obesity, is strongly associated with IDD. Investigating potential roles of other structural genes, such as col-IX and aggrecan (ACAN), in IDD and considering a GWAS to elucidate a genomically global look at the basis of IDD development would be of considerable impact on our understanding of IDD.
Highlights
Intervertebral disc degeneration (IDD) is a chronic musculoskeletal disease characterized by a gradual loss of water and proteoglycans (PGs) from the nucleus pulposus with a high incidence of asymptomatic cases
While the data presented in this study showed that polymorphisms in these genes were not associated with IDD of the cohort investigated, elevated BMI, as a measure of obesity, is strongly associated with IDD
Rs1800587 polymorphism of the istraila uloga upalnih (IL)-1a gene showed no significant association with IDD disease (Table III)
Summary
Intervertebral disc degeneration (IDD) is a chronic musculoskeletal disease characterized by a gradual loss of water and proteoglycans (PGs) from the nucleus pulposus with a high incidence of asymptomatic cases. IDD is an unavoidable outcome of ageing; degeneration begins as early as the second decade of life. The collagen network formed mostly of type I and type II collagen fibrils provides radially distributed tensile strength to the disc and anchors the tissue to the bone [5]. Type II collagen production decreases, whereas type I collagen synthesis increases, leading to less compliant type I collagen. The ratio and the relative distribution of type I and type II collagen in the outer annulus and a decrease in collagen cross-links make the annulus more susceptible to mechanical failure [6]
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