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Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis

Genes & Immunity volume 15, pages 338–340 (2014)Cite this article

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Abstract

Giant Cell Arteritis (GCA) is the most common vasculitis affecting the elderly. Archived formalin-fixed paraffin-embedded (FFPE) temporal artery biopsy (TAB) specimens potentially represent a valuable resource for large-scale genetic analysis of this disease. FFPE TAB samples were obtained from 12 patients with GCA. Extracted TAB DNA was assessed by real time PCR before restoration using the Illumina HD FFPE Restore Kit. Paired FFPE-blood samples were genotyped on the Illumina OmniExpress FFPE microarray. The FFPE samples that passed stringent quality control measures had a mean genotyping success of >97%. When compared with their matching peripheral blood DNA, the mean discordant heterozygote and homozygote single nucleotide polymorphisms calls were 0.0028 and 0.0003, respectively, which is within the accepted tolerance of reproducibility. This work demonstrates that it is possible to successfully obtain high-quality microarray-based genotypes FFPE TAB samples and that this data is similar to that obtained from peripheral blood.

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Acknowledgements

This work was supported by funding from Arthritis Australia, the Ophthalmic Research Institute of Australia and an Australian National Health and Medical Research Council (NHMRC) grant. CERA receives Operational Infrastructure Support from the Victorian Government. AWH is supported by an NHMRC Early Career Fellowship and MAB by an NHMRC Senior Principal Research Fellowship.

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Authors and Affiliations

  1. The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia

    K Cremin, P Leo, J E Harris, L Bradbury & M A Brown

  2. Clinical Genetics Unit, Centre for Eye Research Australia, The University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia

    E De Smit & A W Hewitt

  3. Department of Pathology, St Vincent’s Hospital, University of Melbourne, East Melbourne, Victoria, Australia

    P McKelvie

  4. Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia

    C L Hill

  5. Department of Medicine, Health Observatory, The University of Adelaide, Adelaide, South Australia, Australia

    C L Hill

  6. Genetic and Epidemiology Group, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia

    A W Hewitt

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  1. K Cremin
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  2. P Leo
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  7. C L Hill
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  8. M A Brown
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Correspondence to M A Brown.

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Cremin, K., Leo, P., Harris, J. et al. Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis. Genes Immun 15, 338–340 (2014). https://doi.org/10.1038/gene.2014.19

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