Vitamin D receptor gene polymorphism influence on lumbar intervertebral disc degeneration

Abstract

Intervertebral disc (IVD) degeneration is a multifaceted pathology that is the main morphological cause of lower back pain. This study aimed to determine the link between the vitamin D receptor gene single nucleotide polymorphisms (SNPs) and degenerative processes of the lumbar spine. The complete lumbar spinal columns were collected from 100 Caucasian cadavers via ventral dissection. The specimens for the histological analysis were harvested from the L5/S1 IVDs and endplates.Then, the tissues were cut into slices, inserted into paraffin blocks, and stained. The histology was evaluated according to the Boos' protocol. Moreover, TaqI(rs731236), FokI(rs2228570), and ApaI(rs7975232) genotyping were performed. Lastly, the histological scores for different genotypes were analyzed. The overall Boos' score in the study group was 12.49. It consisted of a mean IVD score of 7.46 and endplate score of 5.39. The determination of the SNPs was successful in 99 specimens and had a distribution of all alleles in accordance with the Hardy-Weinberg equilibrium. No significant differences in overall histological degeneration scores were found between samples from donors with different genotypes. However, in subgroup analysis of specific regions on the IVD, the significant difference was found in posterior inner anulus fibrosus for ApaI. The results of this study suggest that one must be careful when interpreting the results of the clinical and/or radiological studies on vitamin D receptor gene polymorphisms and lumbar spine degeneration risk, because such a relationship, if present, is likely to be very subtle.

Sirt1 protects against intervertebral disc degeneration induced by 1,25-dihydroxyvitamin D insufficiency in mice by inhibiting the NF-κB inflammatory pathway

“…It has been reported that vitamin D is closely associated with rickets [ 2 ], osteoarthritis [ 3 ], osteoporosis [ 4 ] and lumbar disc herniation [ 5 , 6 ]. The vitamin D receptor (VDR) is widely expressed in intervertebral disc cells, and in various studies, genetic polymorphisms, such as TaqI (rs731236), FokI (rs2228570), and ApaI (rs7975232), have been implicated in the pathogenesis of IVDD [ 7 , 8 ]. The association between vitamin D and degenerative disc disease is strong, as it has been demonstrated in large groups with diverse ethnic backgrounds, including Australian, British, Chinese, Japanese and Finnish populations [ 9 ].…”

Effects of Sex and Obesity on LEP Variant and Leptin Level Associations in Intervertebral Disc Degeneration

“…Genetic modulations associated with human disc degeneration or back pain are separated by gene function, such as structural enzymes that cleave extracellular-matrix molecules and inflammatory mediators [ 37 ]. In fact, many SNPs have been reported in several studies to be associated with IVDD, such as MMP1 and MMP3 in the degeneration of different matrix components [ 38 ]; COL1, 2, 9, and 11 in the degradation or loss of collagen [ 33 , 39 , 40 , 41 , 42 ]; VDR and CLIP in the degradation or loss of proteoglycan [ 43 , 44 ]; and IL-1, IL-6 and COX2 in the increase of inflammation [ 45 , 46 ].…”