Genetic variation in the coagulation factor V gene and risk of femoral head osteonecrosis

作者：Kim Tae Ho; Baek Seung Hoon; Lim Jeong Ok; Lee Sang Han^*; Kim Shin Yoon

来源：Molecular Medicine Reports, 2015, 12(3): 4434-4440.

DOI：10.3892/mmr.2015.4000

• osteonecrosis of the femoral head
• factor V
• polymorphism

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.

• 出版日期2015-9