Role of Runx2 polymorphisms in risk and prognosis of ossification of posterior longitudinal ligament

J Clin Lab Anal. 2017 Jul;31(4):e22068. doi: 10.1002/jcla.22068. Epub 2016 Oct 5.

Abstract

Background: Our study was aimed at finding out if Runx2 SNPs (single-nucleotide polymorphisms) are related to susceptibility to and prognosis of ossification of posterior longitudinal ligament (OPLL).

Methods: We selected 80 OPLL patients and another 80 independent patients without OPLL from September 2013 to November 2014. Serum was collected to detect the genotypes of rs1321075, rs12333172, and rs1406846 on Runx2 with direct sequencing analysis.

Results: Differences in clinical characteristics, including age, weight, height, sex ratio, as well as smoking and drinking history, between OPLL and control groups appeared to be insignificant (all P-value >.05). The allele of rs1406846 (A) emerged as a key element in raising OPLL risk with the biggest statistical significance (P<.001). Conversely, alleles of rs967588 (T) and rs16873379 (C) were associated with reduced predisposition to OPLL less remarkably (both P=.033). Regarding rs16873379, the case group exhibited a smaller frequency of homozygote CC in comparison with TT genotype than the control group (P=.016). Furthermore, the improvement rate based on calculation of JOA score suggested that genotype AA of rs6908650 was beneficial for OPLL patients' recovery from posterior laminoplasty surgery (P<.05), while genotypes of rs16873379 (CC), rs1406846 (AA), and rs2677108 (CC) significantly restrained this process (P<.05). Besides, rs16873379, rs1406846, and rs2677108 were significantly associated with number of ossification segments (P<.05).

Conclusions: Runx2 SNPs (e.g., rs16873379, rs1406846, and rs2677108) were strongly correlated with onset and treatment efficacy of OPLL, and they might regulate severity of OPLL.

Keywords: Runx2; SNP; occurrence; ossification of posterior longitudinal ligament; prognosis.

MeSH terms

  • Adult
  • Cohort Studies
  • Core Binding Factor Alpha 1 Subunit / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Ossification of Posterior Longitudinal Ligament / epidemiology*
  • Ossification of Posterior Longitudinal Ligament / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Risk

Substances

  • Core Binding Factor Alpha 1 Subunit
  • RUNX2 protein, human