Influence of lifestyle characteristics and VDR polymorphisms as risk factors for intervertebral disc degeneration: a case-control study

Background: Intervertebral disc degeneration ( DD) is an important cause of low back pain and its precise aetiology is not fully understood, being attributed to cumulative environmental, biomechanical and genetic effects. The vitamin D plays a key role in regulation of calcium homeostasis and bone mineralization, exerting its biological activities by binding to a high-affinity receptor ( VDR). Polymorphisms in VDR gene were previously associated with DD process, however with conflicting results. Here, we aimed to investigate the influence of lifestyle characteristics and VDR TaqI, BsmI, ApaI and FokI polymorphisms as risk factors for DD process. Methods: Retrospective case-control study involving 231 participants: 119 with confirmed DD and 112 healthy controls. Genotyping of VDR polymorphisms was performed by PCR-RFLP and real-time PCR using TaqMan methodology. All patients answered a questionnaire regarding lifestyle characteristics, such as educational level, pain localization, smoking habits, engagement of physical activity, postural and load weight at work and familial history of disc degeneration. The variables were compared between groups and adjusted by age and gender. Results: The case group was composed by 52% female and 48% male and the mean age was 40.0 years old, while in the control group 79% was female and 21% male and the mean age was 32.0 years old. Although gender distribution and mean age were different between groups, in the control group all participants were less than 45 years old and there was a prevalence of women in both groups. The factors that could be possibly associated to DD in the Brazilian population studied included smoking habits ( 26% in cases and 9% in controls, p = 0.003), lack of engagement in physical activity ( observed in 77% of cases and 62% of controls, p = 0.018), and loading weight during work routine ( 58% in cases and 24% in controls, p <= 0.001). However, after adjusting by age and gender, only smoking habits remained associated to disc degeneration ( p = 0.027). Considering the educational level, 35.2% of cases and 15.6% of controls had only the Elementary School, and 5.5% of DD group and 28.6% of control group had completed College ( p = 0.025). In addition, educational level was directly associated to load weight at work ( p = 0.012). Regarding VDR polymorphisms, no significant difference in genotype and allele frequencies between groups was observed. The haplotype analysis revealed that the combined wild-type alleles of TaqI, ApaI and FokI polymorphisms-TGT-was observed in a higher frequency in control group ( p = 0.039). Conclusion: The findings suggested that smoking habits was a risk factor for disc degeneration in the population studied. Single analysis revealed no significant effects of VDR polymorphisms in disc degeneration process, while the combination of wild-type alleles of TaqI, ApaI and FokI polymorphisms, TGT haplotype, decreased the risk of the disease. (AU)