Abstract
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.
Highlights
Lumbar disc herniation (LDH) is a common spine disease characterized by a tear in the disc ring and bulging out of its soft portion[1]
To the best of our knowledge, this finding has not been replicated in any other population and studies based on populations other than Europeans are necessary to validate the significant hits identified by Gruber et al In this study, we aimed to investigate the genetic association between the polymorphisms of COMT and the symptomatic LDH in a study sample comprised of 2,678 subjects with Chinese Han ancestry
The patients were diagnosed by positive magnetic resonance imaging (MRI) findings for symptomatic LDH with a history of unilateral pain radiating from the back along the femoral or sciatic nerve to the corresponding dermatome of the nerve root for more than 4 weeks at least
Summary
Lumbar disc herniation (LDH) is a common spine disease characterized by a tear in the disc ring and bulging out of its soft portion[1]. As a complex disease with multiple contributing factors, previous studies have identified various factors, such as age, smoking, and obesity, to be significantly associated with LDH. In addition to these environmental factors, genetics have been proven to play an important role in the pathology of LDH. To the best of our knowledge, this finding has not been replicated in any other population and studies based on populations other than Europeans are necessary to validate the significant hits identified by Gruber et al In this study, we aimed to investigate the genetic association between the polymorphisms of COMT and the symptomatic LDH in a study sample comprised of 2,678 subjects with Chinese Han ancestry.
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