Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/92134
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Type: Journal article
Title: Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis
Author: Cremin, K.
Leo, P.
Harris, J.
De Smit, E.
Bradbury, L.
McKelvie, P.
Hill, C.
Brown, M.
Hewitt, A.
Citation: Genes and Immunity, 2014; 15(5):338-340
Publisher: Nature Publishing Group
Issue Date: 2014
ISSN: 1466-4879
1476-5470
Statement of
Responsibility: 
K Cremin, P Leo, J E Harris, E De Smit, L Bradbury, P McKelvie, C L Hill, M A Brown and A W Hewitt
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.
Keywords: Temporal Arteries; Humans; Reproducibility of Results; Polymorphism, Single Nucleotide; Aged; Giant Cell Arteritis; Genome-Wide Association Study; Genotyping Techniques
Description: Published online 15 May 2014
Rights: © 2014 Macmillan Publishers Limited
RMID: 0030014198
DOI: 10.1038/gene.2014.19
Appears in Collections:Medicine publications

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