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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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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DOI: https://doi.org/10.1038/gene.2014.19