Lack of association between hypoxia inducible factor-1 alpha gene polymorphisms and biopsy-proven giant cell arteritis

ISSN: 0392856X
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Abstract

Background and objective: Since the transcription factor hypoxia-inducible factor 1 (HIF-I) is a key early mediator of the response to ischemia and giant cell arteritis (GCA) is a polygenic disease leading to severe ischemic complications, in the present study we analysed for first time the implication of two HIF-1α gene polymorphisms in the susceptibility to and clinical expression of GCA. Methods: Two hundred and fifteen biopsy-proven GCA patients and 470 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for two single nucleotide polymorphisms, rs11549465 (CIT) and rs11549467 (GIA), using a pre-designed TaqMan allele discrimination assay. Post PCR, the genotype of each sample was attributed automatically by measuring the allelic specific fluorescence on the ABI PRIM 7900 sequence. Results: The HIF-1α, rs11549465 TT genotype was extremely uncommon in both GCA patients (2.3%) and controls (2.1%). Although the frequency of individuals carrying the CT or TT genotypes was increased in GCA patients (25.1%) compared to controls (20.4%) the difference was not statistically significant (OR 1.30 [95% CI: 0.89-1.91]; p=0.17). Also, all GCA patients and most controls (98.9%) were homozygous for the rs11549467 GG genotype. GCA patients carrying the rs11549465 CT or TT genotypes had a slight increased risk of developing visual ischemic complications (33.1%) compared to the remaining GCA patients (22.8%); OR 1.60 (95% CI: 0.81-3.16); p=0.18. Conclusion: Our results do not confirm an implication of HIF-1α gene polymorphisms in the susceptibility to and clinical expression of GCA. © Copyright Clinical and Experimental Rheumatology 2010.

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Torres, O., Palomino-Morales, R., Vazquez-Rodriguez, T. R., Gamallo, C., Morado, I. C., Miranda-Filloy, J. A., … Gonzalez-Gay, M. A. (2010). Lack of association between hypoxia inducible factor-1 alpha gene polymorphisms and biopsy-proven giant cell arteritis. Clinical and Experimental Rheumatology, 28(1 SUPPL. 57).

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