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CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human

Lianyong Li1, Xi Wang2,3, Qun Zhao1

  • 1Department of Pediatric Orthopedics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang, 110004, China.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society
|May 14, 2016
PubMed

Insights

Genetic variants in CX3CR1, specifically rs3732378 and rs3732379, are associated with an increased risk of developmental dysplasia of the hip. This study identifies CX3CR1 as a candidate gene for hip dislocation pathogenesis.

Area of Science:

  • Genetics
  • Orthopedics
  • Molecular Biology

Background:

  • Developmental dysplasia of the hip (DDH) is a leading cause of childhood disability and early osteoarthritis.
  • Previous research suggested a CX3CR1 gene variant's role in DDH within a family.
  • Population-based genetic evidence for CX3CR1's involvement in DDH was lacking.

Purpose of the Study:

  • To investigate the association between CX3CR1 gene polymorphisms and developmental dysplasia of the hip in a population.
  • To identify specific single nucleotide polymorphisms (SNPs) within CX3CR1 that may confer risk for hip dislocation.

Main Methods:

  • A case-control association study was conducted.
  • Genotyping of two CX3CR1 SNPs, rs3732378 and rs3732379, was performed in 689 hip dislocation patients and 689 controls.
  • Statistical analysis, including odds ratios and confidence intervals, was used to assess risk.

Main Results:

  • Significant differences in genotype distributions were observed for both rs3732378 (p=0.003) and rs3732379 (p=0.017).
  • The minor allele of rs3732378 increased hip dislocation risk by 2.25-fold (OR=2.25).
  • The SNP rs3732379 was associated with an 1.84-fold increased risk (OR=1.84).

Conclusions:

  • The CX3CR1 gene is implicated in the pathogenesis of developmental dysplasia of the hip.
  • SNPs rs3732378 and rs3732379 are identified as susceptibility loci for hip dislocation.
  • These findings provide population-based genetic evidence supporting CX3CR1's role in DDH.

Keywords:
CX3CR1developmental dysplasia of the hipsingle nucleotide polymorphismsusceptibility

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