Abstract

Vitamin D receptor (VDR) gene polymorphism has a certain relationship in Han people with lumbar degenerative disc disease (LDDD), however, this relationship has not been definitely analyzed so far, thus, the purpose of this study is to analyze the polymorphism of three VDR gene loci and reflect the correlation between VDR gene polymorphism and lumbar degenerative disc disease in Han people. In this study, we collected all blood samples from Chinese Han population, including 81 patients with LDDD by lumbar magnetic resonance images (MRI) identified as case group and 10l healthy people as the control group. Case group and control group were divided into four groups according to MRI assay: No degeneration, mild degeneration, moderate degeneration and severe degeneration, and then the polymorphism of VDR gene was detected by PCR-RFLP assay using Apa I, Taq I and Bsm I restriction endonuclease in samples of the all subjects. The relationship between genotype and gene frequency distribution was analyzed in each group. The results demonstrated that Taq Irestriction endonuclease cutting site polymorphism on VDR gene is associated with LDDD in Chinese Han people. However, Apa I and Bsm I restriction endonuclease cutting site polymorphism on VDR gene is not associated with LDDD in Han people. These results revealed that the polymorphisms of the VDR genes were associated with disc degeneration in Han people in details and help to control and cure LDDD.

Key words: Vitamin D receptor gene, single nucleotide polymorphism, restriction fragment length polymorphism, lumbar degenerative disc disease.