Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran

Int J Rheum Dis. 2021 May;24(5):694-700. doi: 10.1111/1756-185X.14097. Epub 2021 Apr 16.

Abstract

Aim: Osteoarthritis (OA) is the most common chronic joint disorder, resulting from the breakdown of joint cartilage. It occurs in the knees, hands, and hips, leading to pain, stiffness, inflammation, and swelling.

Methods: In this study, 100 hand and knee OA patients, meeting the American College of Rheumatology criteria were included in the case group, and 100 healthy individuals were allocated to the control group. Blood samples were collected from the participants. After DNA extraction, genotyping was carried out for GDF5 rs143383 C/T polymorphism by allele-specific polymerase chain reaction (ASPCR) and for D-repeat alleles of asporin (ASPN) by conventional PCR assay.

Results: The results showed that the frequency of the D14 allele of ASPN was significantly higher than other alleles in the case group (P = .0001). Also, the frequency of the D14 allele among women was significantly higher than in men (P = .004). Moreover, the frequency of the TT allele in GDF5 rs143383 C/T polymorphism was significantly higher than the CC and CT alleles in the case group, compared with the control group (P = .001). A significant difference was found between the TT allele and other alleles in female and male patients compared with the control group (P = .02).

Conclusions: The D14 allele of the ASPN gene and TT allele of the GDF5 gene (rs143383 + 104T/C) are associated with hand and knee OA in the Kurdish population, indicating that these alleles could be risk factors for OA, at least in our populations.

Keywords: asporin; growth/differentiation factor-5; osteoarthritis; polymorphism.

MeSH terms

  • Aged
  • Alleles
  • Cartilage, Articular / physiopathology*
  • Case-Control Studies
  • Extracellular Matrix Proteins / genetics*
  • Extracellular Matrix Proteins / metabolism
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Growth Differentiation Factor 5 / genetics*
  • Growth Differentiation Factor 5 / metabolism
  • Hand / physiopathology*
  • Humans
  • Iran / epidemiology
  • Male
  • Middle Aged
  • Osteoarthritis, Knee / epidemiology
  • Osteoarthritis, Knee / genetics*
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • ASPN protein, human
  • Extracellular Matrix Proteins
  • GDF5 protein, human
  • Growth Differentiation Factor 5