Association of Vitamin‐D receptor polymorphisms with degenerative disc disease in Indian population

Abstract

The degenerative disc disease (DDD) in the lumbar spine refers to a syndrome that can lead to low back pain in elderly people. In the DDD, degeneration and herniation of disc are two main processes that contribute to low back pain. VDR is the first reported gene associated with DDD in a monozygotic twins study with Finnish population, which is located on chromosome 12q12–q14. Similar associations are later confirmed in various ethnic groups including Chinese and Japanese. There is a clear association between single nucleotide polymorphisms (SNP) and vitamin‐D receptor (VDR) gene (FokI and Taq1); however the pattern of genetic association with DDD in Indian population remains unknown. Thus, the present study was performed to validate the association of VDR polymorphisms and DDD in Indian population. In the present study, we have analyzed the polymorphisms of the VDR gene with an Indian population (48 cases and 47 controls). We identified a significant difference in the frequency of VDR gene alleles (FokI and TaqI) between cases and controls. In addition, there was a significant difference in genotypic distribution of FokI and TaqI alleles between these two groups. Overall, the distributions of VDR genotype frequencies FF, Ff, TT and Tt showed strong association with the DDD. To our knowledge, the present study reveals for the first time that polymorphism in the VDR gene is associated with disc degeneration and disc herniation in Indian population.Support or Funding InformationThis work was supported by research grant from the Karpagam Research Foundation, Karpagam Faculty of Medical Sciences and Research, Coimbatore, India.