Association between vitamin D receptor genetic polymorphisms and haplotypes and risk of lumbar degenerative disc disease in a Chinese population.

ABSTRACT: Degenerative disc disease is a continuous degeneration process of intervertebral discs. We performed a case-control study to investigate the association between 16 common SNPs of VDR and degenerative disc disease risk in a Chinese population. A total of 482 pairs of patients with degenerative disc disease and controls were collected between May 2014 and May 2016. The genotyping of VDR rs1544410, rs2239181, rs2107301, rs2239179, rs2189480, rs3819545, rs2239186, rs2254210, rs2238136, rs4760648, rs11168287, rS4328262, rS4334089, rs3890733, rs10783219 and rS7299460 was done in a 384-well plate format on the sequenom MassARRAY platform (Sequenom, San Diego, USA). We observed that the TC (OR=2.13, 95% CI=1.34-3.40) and CC (OR=2.73, 95% CI=1.75-4.28) genotypes of rs2239179 were associated with an increased risk of degenerative disc disease when compared with the TT genotype. However, there was no significant correlation between other fifth SNPs of VDR and degenerative disc disease risk. The haplotype analysis revealed that the rs2239179 had linkage disequilibrium with rs2107301 (D'=0.97, r2=0.25) and rs2238136 (D'=0.81, r2=0.15). The rs2239179 polymorphism was associated with drinking habit (Spearman correlation coefficient =0.09, P=0.006) in the risk of intervertebral disc disease. In conclusion, our study indicated that the VDR genetic polymorphism may contribute to the development of degenerative disc disease in the Chinese population.

SUBMITTER: Fang Y 

PROVIDER: S-EPMC6965387 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature