Association study of hypoxia inducible factor 1α (HIF1α) with osteonecrosis of femoral head in a Korean population

Hong, Jung Min; Kim, T.-H.; Chae, Soo Cheon; Koo, Kyung‐Hoi; Lee, Y. Jong; Park, E. Kyun; Choi, Ju Young; Ryoo, Hyun‐Mo; Kim, S.-Y.

doi:10.1016/j.joca.2006.12.007

Cited by 38 publications

(34 citation statements)

References 36 publications

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“…Therefore, it is hypothesized that variation in genes involved in angiogenesis by hypoxia might influence the development of ONFH. Previously, we reported that polymorphisms of VEGF and HIF-1α, major target genes for angiogenesis and hypoxia, were associated with increased susceptibility to ONFH (Hong et al, 2007;Kim et al, 2008). These results suggested a genetic association between polymorphisms in genes related to angiogenesis and hypoxia and the development of ONFH.…”

Section: Discussionmentioning

confidence: 77%

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Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head

Hong

Kim

et al. 2010

Exp Mol Med

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Abbreviations: HWE, Hardy-Weinberg equilibrium; LD, linkage disequilibrium; MAF, minor allele frequency; ONFH, osteonecrosis of the femoral head; SNP, single nucleotide polymorphism AbstractMultiple factors have been implicated in the development of osteonecrosis of the femoral head (ONFH). In particular, non-traumatic ONFH is directly or indirectly related to injury of the vascular supply to the femoral head. Thus, hypoxia in the femoral head caused by impaired blood flow may be an important risk factor for ONFH. In this study, we investigated whether genetic variations of angiogenesis-and hypoxia-related genes contribute to an increased risk for the development of ONFH. Candidate genes were selected based on known hypoxia and angiogenesis pathways. An association study was performed using an Affymetrix Targeted Genotyping 3K Chip array with 460 ONFH patients and 300 control subjects. We showed that single nucleotide polymorphisms (SNPs) in the genes TF, VEGFC, IGFBP3, and ACE were associated with an increased risk of ONFH. On the other hand, SNPs in the KDR and NRP1 genes were associated with protection against ONFH. The most important finding was that one SNP (rs2453839) in the IGFBP3 gene was significantly associated with a higher risk of ONFH (P = 0.0061, OR 7.74). In subgroup analysis, most candidate gene variations that were associated with ONFH occurred in the idiopathic subgroup. Among other SNPs, ACE SNPs were associated with steroid-induced ONFH (P = 0.0018-0.0037, OR ＞ 3). Collectively, our findings suggest that genetic variations in angiogenesis-and hypoxia-related genes may help to identify susceptibility factors for the development of ONFH in the Korean population.

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Section: Discussionmentioning

confidence: 77%

“…Hypoxia also develops in bone fractures and in the joints of patients with rheumatoid arthritis (RA), leading to necrosis (Lewis et al, 1999). In fact, we previously have shown that a polymorphism in the HIF-1α gene is closely associated with ONFH (Hong et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head

Hong

Kim

et al. 2010

Exp Mol Med

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show abstract

“…HIF1 regulates target genes such as VEGF and vWF that mediate adaptive responses, such as angiogenesis, to reduced oxygen availability [11]. HIF1α polymorphisms are associated with idiopathic ONFH in men; and variations in HIF1α play a role in the pathogenesis and risk factor for ONFH [27]. Osteoblasts derived from femoral heads have been found to exhibit downregulation of VEGF within 24 hours of incubation with corticosteroid [28].…”

Section: Discussionmentioning

confidence: 99%

Decreased Proliferation and Abnormal Differentiation of Human Mesenchymal Stromal Cells in Steroid-Induced Osteonecrosis of Femoral Head

Hu¹

2014

SOJB

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“…It is also associated with susceptibility to systemic sclerosis, a disease characterized by vascular inflammation and angiopathy (Wipff et al 2009). Finally, distinct polymorphisms of unknown significance are associated with osteonecrosis of the femoral head (Hong et al 2007). …”

Section: Hif-1amentioning

confidence: 99%

Common Polymorphisms in Angiogenesis

Rogers

D’Amato

2011

Cold Spring Harbor Perspectives in Medicine

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Association study of hypoxia inducible factor 1α (HIF1α) with osteonecrosis of femoral head in a Korean population

Abstract: We found that HIF1alpha polymorphisms are associated with idiopathic ONFH in men. These results suggest that variations in HIF1alpha may play an important role in the pathogenesis and risk factor for ONFH.

Cited by 38 publications

References 36 publications

Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head

Genetic association of angiogenesis- and hypoxia-related gene polymorphisms with osteonecrosis of the femoral head

Decreased Proliferation and Abnormal Differentiation of Human Mesenchymal Stromal Cells in Steroid-Induced Osteonecrosis of Femoral Head

Common Polymorphisms in Angiogenesis

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