RGD Reference Report - Association analysis of tissue factor pathway inhibitor polymorphisms and haplotypes with osteonecrosis of the femoral head in the Korean population. - Rat Genome Database

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Association analysis of tissue factor pathway inhibitor polymorphisms and haplotypes with osteonecrosis of the femoral head in the Korean population.

Authors: Dai, XL  Hong, JM  Oh, B  Cho, YS  Lee, JY  Park, EK  Kim, CY  Kim, SY  Kim, TH 
Citation: Dai XL, etal., Mol Cells. 2008 Nov 30;26(5):490-5.
RGD ID: 11060260
Pubmed: (View Article at PubMed) PMID:18695356

Thrombophilia and hypofibrinolysis have been implicated in the pathogenesis of osteonecrosis of the femoral head (ONFH). Tissue factor pathway inhibitor (TFPI), a multivalent protease inhibitor, is an important regulator of the tissue factor-mediated blood coagulation pathway. Mutations of the TFPI gene can increase the risk of thrombin generation and venous thrombosis. The aim of this study was to evaluate the association of TFPI gene polymorphisms with ONFH. All exons and their boundaries of the TFPI gene, including the -1500 bp promoter region, were directly sequenced in 24 Korean individuals and four sequence variants were identified. These four polymorphisms [-51096 G > A (C-399T), -50984A > G (T-287C), + 24999A > G (Int7 -33T > C), + 37339T > A] were genotyped in 474 ONFH patients and 349 control subjects. The association of genotyped SNPs with ONFH was not found in the present study. The haplotype AAAT of TFPI was significantly associated with total, alcohol-induced, and idiopathic ONFH (p = 0.003, 0.021, and 0.007, respectively), and the haplotype GAAT was significantly associated with total and alcohol ONFH (p = 0.022 and 0.009, respectively). In addition, a new SNP + 37339 T > A in the 3'-UTR of the TFPI gene, was found in the Korean population. To date, this study is the first to show that haplotypes of the TFPI gene are associated with an increased susceptibility for ONFH. The results suggest that genetic variations in TFPI may play an important role in the pathogenesis and risk factors of ONFH.

Annotation

Disease Annotations    
Femur Head Necrosis  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Tfpi  (tissue factor pathway inhibitor)

Genes (Mus musculus)
Tfpi  (tissue factor pathway inhibitor)

Genes (Homo sapiens)
TFPI  (tissue factor pathway inhibitor)


Additional Information