Personalized and Precision Medicine Journal
Where Innovations Meets Personalized and Precision Medicine

Exploring aspartic acid D-repeat polymorphism as a potential risk factor for primary hip osteoarthritis in the Iranian population

Document Type : Original Article

Authors

Mohammad Qoreishy 1
Abdoreza Sajedi 2
Mostafa Qorbani 3
Mina Makvand 4
Roshanak Jazayeri 5

1 Associated professor of Orthopaedic Surgery, Shahid Beheshti university of medical sciences, Tehran

2 Department of Orthopedics, Medical School, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

3 Non-communiable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.

4 Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.

5 Non-communiable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran / Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran

https://doi.org/10.22034/pmj.2024.2027211.1037
Abstract
Background: The ASPN gene encodes a cartilage extracellular protein (Asporin) that is known to be involved in the pathological paths of osteoarthritis (OA). Many research efforts have explored the link between aspartic acid D-repeat polymorphism in the asporin (ASPN) gene and the risk of OA susceptibility, yet the findings are inconsistent. Our study involved a case-control analysis to examine the relationship between D allele polymorphism in asporin and primary hip osteoarthritis (HOA) among the Iranian population.
Methods: The asporin D repeat polymorphism was genotyped in primary HOA patients (N=70) and healthy controls (N=70). Each group consisted of 28 women and 42 men. Patients were classified into three subgroups based on the radiographic severity of osteoarthritis. Statistical analysis was performed on gender, severity, and primary HOA position.
Odds ratios (ORs) along with 95% confidence intervals (95% CIs) were utilized to assess the association between D-repeats in the ASPN gene and primary hip osteoarthritis.
Results: Three common D-repeat variants (D13, D14, and D15) of the ASPN gene were obtained. The most frequent allele in the patient group was observed at D13, while it was D15 among controls. In both cohorts, the least frequent allele was D14. Our findings indicate no statistically significant association between any D-repeats with primary HOA according to the sex of patients or the severity of the disease.
Conclusion: Our findings indicate that polymorphisms in the ASPN D-repeat are not linked to a higher risk of primary hip osteoarthritis (HOA) in the Iranian population.  However, future large studies are needed to validate these findings.

Keywords

Asporin gene
Primary hip osteoarthritis
Polymorphism
Iran
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Personalized and Precision Medicine Journal
Volume 9, Issue 33 - Serial Number 33
Original article
Spring 2024
Pages 29-36

  • Receive Date 26 February 2024
  • Revise Date 12 April 2024
  • Accept Date 29 May 2024

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