Clinical Orthopaedics and Related Research

, Volume 466, Issue 5, pp 1041–1046 | Cite as

Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population

  • Jun-Dong Chang
  • Mina HurEmail author
  • Sang-Soo Lee
  • Je-Hyun Yoo
  • Kyu Man Lee
Symposium: Molecular and Surgical Advances in Osteonecrosis


Major thrombophilic mutations have been identified as risk factors for nontraumatic osteonecrosis of the femoral head (ONFH) in Caucasians. We asked whether the genetic background of patients with ONFH in the Korean population was similar. We analyzed factor V G1691A mutation (factor V Leiden), prothrombin G20210A mutation, and methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in 71 patients (53 men, 18 women) with ONFH. We classified these patients as 51 alcohol-induced, 18 idiopathic, one steroid-induced, and one dysbaric. We recruited 200 normal control subjects (128 men, 72 women). We used multiplex PCR/restriction fragment length polymorphism for each genotyping. We observed neither factor V Leiden nor prothrombin G20210A mutation. Although methylenetetrahydrofolate reductase A1298C genotypes were not associated with osteonecrosis, methylenetetrahydrofolate reductase C677T variant genotypes increased the risk of ONFH compared with 677CC. Odds ratios of 677CT and 677CT+TT were 2.00 (95% confidence interval, 1.05–3.81) and 1.96 (95% confidence interval, 1.07–3.59), respectively, compared with 677CC. Our data suggest methylenetetrahydrofolate reductase C677T polymorphism plays a role in the pathogenesis of osteonecrosis in the Korean population. It also implies the genetic risk profile of ONFH may differ among ethnic populations.

Level of Evidence: Level II, diagnostic study. See the Guidelines for Authors for a complete description of levels of evidence.


Osteonecrosis Factor Versus Korean Population Normal Control Subject MTHFR C677T 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We thank Tae Young Kang, MT, for his excellent technical assistance.


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Copyright information

© The Association of Bone and Joint Surgeons 2008

Authors and Affiliations

  • Jun-Dong Chang
    • 1
  • Mina Hur
    • 2
    Email author
  • Sang-Soo Lee
    • 1
  • Je-Hyun Yoo
    • 1
  • Kyu Man Lee
    • 2
  1. 1.Department of Orthopedic SurgeryHallym University College of MedicineSeoulKorea
  2. 2.Department of Laboratory MedicineHangang Sacred Heart Hospital, Hallym University College of MedicineSeoulKorea

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