A common polymorphism of COMT was associated with symptomatic lumbar disc herniation based on a large sample with Chinese Han ancestry

Lumbar disc herniation (LDH) is a common spine disease characterized by a tear in the disc ring and bulges out at the soft portion. COMT is a protein coding gene located at 22q11.21, and its gene product is a major mammalian enzyme involved in the degradation of catecholamines. A total of 2,678 study subjects with Chinese Han ancestry were recruited and 15 SNPs were selected for genotyping in our study subjects. A synonymous coding SNP, rs4633, was identified to be significantly associated with the disease status of LDH after adjusting for BMI (OR = 0.76, P = 4.83 × 10(−5)). This SNP was also identified to be significantly associated with COMT gene expression in three types of human tissues. Minor alleles of rs4633 (T) increased the expression of COMT in these 3 tissues. We have identified a significant SNP of COMT, rs4633, which is associated with symptomatic LDH in a large Chinese Han-based sample of the study subjects. This significant finding is further replicated by haplotypic analysis. Evidence from bioinformatics analyses have shown that rs4633 is also significantly associated with the gene expression of COMT. Our findings provide additional supportive evidence for an important role of COMT gene in the symptomatic LDH susceptibility.