Objective: To assess whether polymorphisms of the fat mass and obesity associated gene (FTO) are associated with the presence and severity of degenerative disc disease (DDD) in a Chinese Han population.
Methods: In this case-control study, patients with DDD and controls matched for age, sex and body mass index were genotyped for six single nucleotide polymorphisms (SNPs) of FTO. Disease severity was measured using the Japanese Orthopaedic Association score. Allelic, genotypic and genotype-phenotype association analyses were performed.
Results: A total of 80 patients with DDD and 80 controls were studied. All six SNPs were in Hardy-Weinberg equilibrium. The frequencies of allele G and genotype G/G of the SNP rs11076008 were significantly associated with DDD after Bonferroni correction. No associations were shown between the SNPs studied and sex or disease severity.
Conclusion: The SNP rs11076008 of FTO may play an important role in the development of DDD in a Chinese Han population. The G/G genotype and/or G allele may be a risk factor for DDD. These results suggest that FTO is a DDD predisposition gene and may support a close relationship between obesity and DDD.
Keywords: Fat mass and obesity associated gene; degenerative disc disease; gene polymorphisms; single nucleotide polymorphisms.