Genetic risk factors for lumbar disc disease

Aim and Background Lumbar disc degeneration (LDD) is thought to be multifactorial in origin. Very recently the focus has shifted to the involvement of a family of candidate genes in the pathogenesis of LDD. There is particular emphasis on the vitamin D receptor gene (VDR gene). The VDR polymorphisms FOK1, TAQ1, and APO1 have been variably associated with LDD. Objective To evaluate the association between the FOK1/Taq1 genes and LDD. Materials and Methods One hundred unrelated healthy (asymptomatic) individuals who presented for routine health checkup and 93 consecutive patients (43 males and 50 females) with no history of low back pain were enrolled in the study after informed consent was obtained. The MRI images of cases and controls were graded and peripheral blood samples were collected from all participants and sent for genetic analysis. Results Individuals with the dominant genotype for Taq1 had a significantly higher association with LDD than those without it. There was no association between LDD and the Fok1 genotype. Conclusion Genetic predisposition is an important risk factor for LDD.

Automated summary

Research evaluated the association between FOK1/Taq1 genes and LDD. Results showed a significantly higher association of the dominant Taq1 genotype with LDD, while no association was found with the Fok1 genotype. These findings suggest genetic predisposition is an important risk factor for LDD.