Vitamin D Receptor gene polymorphisms and plasma levels are associated with lumbar disc degeneration

• Published in: Scientific reports 2019-05, Vol.9 (1), p.7829-7829, Article 7829
• Main Authors: Yang, Qinghua, Liu, Yang, Guan, Yewen, Zhan, Xinli, Xiao, Zengming, Jiang, Hua, Wei, Qingjun
• Format: Article
• Language: English
• Subjects: 13/51; 14/63; 38/22; 45/77; 631/208/737/211/2120; 692/53/2423; 82/80; Adolescent; Adult; Alleles; Biomarkers - blood; Biomarkers - metabolism; Case-Control Studies; Degeneration; Enzyme-linked immunosorbent assay; Female; Gene frequency; Gene polymorphism; Genetic Predisposition to Disease; Genotyping; Humanities and Social Sciences; Humans; Immunohistochemistry; Intervertebral Disc - pathology; Intervertebral Disc Degeneration - blood; Intervertebral Disc Degeneration - diagnosis; Intervertebral Disc Degeneration - genetics; Intervertebral Disc Degeneration - pathology; Intervertebral discs; Lumbar Vertebrae - pathology; Male; Middle Aged; multidisciplinary; Plasma; Plasma levels; Polymorphism; Polymorphism, Restriction Fragment Length; Receptors, Calcitriol - blood; Receptors, Calcitriol - genetics; Receptors, Calcitriol - metabolism; Science; Science (multidisciplinary); Single-nucleotide polymorphism; Spinal stenosis; Spondylolisthesis; Vitamin D; Vitamin D receptors; Young Adult
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-019-44373-2

The purpose of this study was to investigate the association of Vitamin D Receptor (VDR) gene polymorphisms and VDR levels with lumbar disc degeneration (LDD). TaqMan SNP Genotyping Assay was utilized to probe VDR gene polymorphisms including the FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236) in 454 patients with LDD and 485 controls. Enzyme-Linked Immunosorbent Assay (ELISA) was used to detect plasma VDR levels. The patients with LDD were divided into three subgroups (subgroup 1: lumbar disc herniation; subgroup 2: lumbar spinal stenosis; subgroup 3: lumbar spondylolisthesis) to further probe the association of plasma VDR levels and VDR gene polymorphisms and LDD. Moreover, immunohistochemistry (IHC) was implemented to evaluate VDR expression in lumbar degenerated disc and normal disc. Allele and genotype frequency of TaqI (rs731236) were significantly different in patients with LDD and controls (all P