ACAN Gene VNTR Polymorphism and Intervertebral Disc Degeneration in a Turkish Population

Abstract

Aim: Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. Aggrecan is the major component of intervertebral disk matrix proteoglycan with multiple functional domains. The aim of this study was to investigate the possible association between ACAN (coding aggrecan) gene variable number tandem repeat (VNTR) polymorphism and susceptibility to IVDD. Methods: Two hundred and sixty subjects participated in this study. The disease group comprised 150 patients diagnosed with symptomatic IVDD. The control group consisted of 110 healthy subjects. The ACAN gene VNTR region was analyzed using the polymerase chain reaction (PCR) method. Results: The most common allele in the patient and the control group was 27 repeat allele (49% and 34.55%, respectively). Allele 26 was more frequent in males compared to females (p=0.030). Allele 21 and 23 were more common in ones living in rural areas (p=0.030) while allele 27 was the most frequent in ones living in urban areas (p<0.001). Allele 26, allele 29 and allele 30 were less frequent in the patient group than in the control group (p=0.013, p=0.001 and p=0.001, respectively) while allele 27 was more common in the patient group compared to the control group (p=0.001). Conclusion: Our results showed that ACAN VNTR allele 27 had a positive relationship with IVDD susceptibility in a Turkish population.