Abstract
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.
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We thank Tae Young Kang, MT, for his excellent technical assistance.
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One or more of the authors (J-DC) have received funding from a research grant at Hallym University Medical Center (01-2006-01).
Each author certifies that his or her institution has approved the human protocol for this investigation, that all investigations were conducted in conformity with ethical principles of research, and that informed consent was obtained.
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Chang, JD., Hur, M., Lee, SS. et al. Genetic Background of Nontraumatic Osteonecrosis of the Femoral Head in the Korean Population. Clin Orthop Relat Res 466, 1041–1046 (2008). https://doi.org/10.1007/s11999-008-0147-1
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DOI: https://doi.org/10.1007/s11999-008-0147-1