title: Genetic background of nontraumatic osteonecrosis of the femoral head in the Korean population.
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.
authors: Department of Orthopedic Surgery, Hallym University College of Medicine, Seoul, Korea.
authors: Jun-Dong
authors: JD
authors: Chang
authors: Mina
authors: M
authors: Hur
authors: Sang-Soo
authors: SS
authors: Lee
authors: Je-Hyun
authors: JH
authors: Yoo
authors: Kyu Man
authors: KM
authors: Lee
mesh_terms: D000305:Adrenal Cortex Hormones / Q000009:adverse effects; D000328:Adult; D000368:Aged; D000437:Alcoholism / Q000150:complications; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D005271:Femur Head Necrosis / Q000139:chemically induced / Q000208:ethnology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000235:genetics; D018570:Risk Assessment; D012307:Risk Factors; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics
chemical_list: D000305:Adrenal Cortex Hormones; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)