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


Cremin, K and Leo, P and Harris, JE and De Smit, E and Bradbury, L and McKelvie, P and Hill, CL and Brown, MA and Hewitt, AW, Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis, Genes and Immunity, 15, (5) pp. 338-340. ISSN 1466-4879 (2014) [Refereed Article]

DOI: doi:10.1038/gene.2014.19


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:96445
Year Published:2014
Web of Science® Times Cited:1
Deposited By:Medicine
Deposited On:2014-11-05
Last Modified:2017-11-07

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