title: Genetic variation in the coagulation factor V gene and risk of femoral head osteonecrosis.
abstract: Osteonecrosis of the femoral head (ONFH) is characterized by the death of the cellular portion of the femoral head due a reduction or disruption in the blood supply. Certain studies have implicated coagulation disorders, including thrombophilia and hypofibrinolysis, in the pathogenesis of ONFH. The factor V (F5) Leiden mutation has been suggested to be a genetic risk factor for venous thromboembolism and osteonecrosis in Caucasian individuals, however, this association remains controversial in other populations. The present study aimed to identify polymorphisms of the F5 gene and performed a case‑control study in a Korean population. The F5 gene was sequenced in 24 unrelated Korean individuals, and 16 polymorphisms were detected. A total of six polymorphisms were genotyped in 423 patients with ONFH and 348 control individuals. Analysis of the association between genotyped single nucleotide polymorphisms and haplotypes and with ONFH was performed. Comparison of the ONFH samples and the control individuals using logistic regression models revealed no statistically significant difference in the frequencies of the F5 polymorphisms and haplotypes. These findings suggested that F5 polymorphisms were not significant in the susceptibility to ONFH in the Korean population.
authors.affiliation: Biomedical Research Institute, Kyungpook National University Hospital, Daegu 700‑721, Republic of Korea.
authors.forename: Tae-Ho
authors.initials: TH
authors.lastname: Kim
authors.affiliation: Department of Orthopedic Surgery, Kyungpook National University Hospital, Daegu 700‑721, Republic of Korea.
authors.forename: Seung-Hoon
authors.initials: SH
authors.lastname: Baek
authors.affiliation: Biomedical Research Institute, Kyungpook National University Hospital, Daegu 700‑721, Republic of Korea.
authors.forename: Jeong Ok
authors.initials: JO
authors.lastname: Lim
authors.affiliation: Department of Food Science and Biotechnology, Kyungpook National University, Daegu 702‑701, Republic of Korea.
authors.forename: Sang-Han
authors.initials: SH
authors.lastname: Lee
authors.affiliation: Skeletal Diseases Genome Research Center, Kyungpook National University, Daegu 700‑721, Republic of Korea.
authors.forename: Shin-Yoon
authors.initials: SY
authors.lastname: Kim
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005270:Femur Head / Q000473:pathology*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010020:Osteonecrosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D012307:Risk Factors; D017422:Sequence Analysis, DNA
chemical_list: D005165:Factor V