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Association study of hypoxia inducible factor 1alpha (HIF1alpha) with osteonecrosis of femoral head in a Korean population

Cited 28 time in Web of Science Cited 35 time in Scopus
Authors
Hong, J. Min; Kim, TH; Chae, SC; Koo, KH; Lee, YJ; Park, EK; Choi, JY; Ryoo, HM; Kim, SY
Issue Date
2007-06
Publisher
Elsevier
Citation
Osteoarthritis and Cartilage. 2007;15(6):688-694
Keywords
HIF1αOsteonecrosisSNPPolymorphismHypoxiaFemoral head
Abstract
Objective
Disruption of the vascular supply to the bone and subsequent hypoxia has been implicated in the pathogenesis of osteonecrosis (ON) of the femoral head (ONFH). To evaluate the genetic effect of HIF1α, a key transcription factor in controlling hypoxia condition, on ONFH, we analyzed HIF1α polymorphism and its genetic association with ONFH.

Methods
We directly sequenced the HIF1α gene in 24 Korean individuals and identified four sequence variants. Four polymorphisms (−2755C>A, +41224T>C, +45319C>T, +51610C>T) were genotyped in ONFH (n = 384). ONFH patients were divided into three subgroups based on etiological factors: idiopathic (129 cases), steroid (59 cases) and alcohol (196 cases) ON groups.

Results
We found that the allele frequency of −2755C>A and the genotype frequencies of +41224T>C and +51610C>T were significantly associated with idiopathic ONFH in men (P = 0.0409, 0.0113, 0.0269, respectively). In addition, haplotype (CTCC) of HIF1α was also significantly associated with idiopathic ONFH in men (P = 0.017).

Conclusions
We found that HIF1α polymorphisms are associated with idiopathic ONFH in men. These results suggest that variations in HIF1α may play an important role in the pathogenesis and risk factor for ONFH.
ISSN
1063-4584
Language
English
URI
http://hdl.handle.net/10371/68830
DOI
https://doi.org/10.1016/j.joca.2006.12.007
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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