Association between EN1 rs4144782 and susceptibility of knee osteoarthritis: A case-control study

Oncotarget. 2017 May 30;8(22):36650-36657. doi: 10.18632/oncotarget.16842.

Abstract

Osteoarthritis (OA) is a complex disease that affects the whole joint, resulting from the combined influence of biomechanical factors and genetic factors. The heritable component for primary OA accounts for about 60% of variation in population liability to the disease. So far, genome-wide association studies (GWAS) and candidate gene studies have established many OA-related loci. However, these findings account for only a rather small fraction of the genetic component. To further reveal the genetic architecture of OA, we conducted this case-control study to explore the association of locus EN1 rs4144782 and knee OA susceptibility in a Chinese population. EN1 rs4144782 was significantly associated with increased risk of knee OA (OR=1.26; 95% CI: 1.05-1.50, P value=0.012). In dominant model, compared with carriers of GG genotype, those with AG or AA genotype have an 1.44-fold increased risk of OA (OR: 1.44; 95% CI: 1.10-1.88; P value=0.008). Subgroup analyses didn't change the results materially. This should be the first association study of EN1 locus on risk of OA, and our finding suggested that the EN1 rs4144782 might contribute to the susceptibility of knee OA.

Keywords: BMD; EN1; case-control; osteoarthritis; polymorphism.

MeSH terms

  • Adult
  • Alleles
  • Asian People
  • Case-Control Studies
  • China
  • Female
  • Gene Frequency
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Osteoarthritis, Knee / diagnosis
  • Osteoarthritis, Knee / genetics*
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • EN1 protein, human
  • Homeodomain Proteins