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

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dc.contributor.authorCremin, K.
dc.contributor.authorLeo, P.
dc.contributor.authorHarris, J.
dc.contributor.authorDe Smit, E.
dc.contributor.authorBradbury, L.
dc.contributor.authorMcKelvie, P.
dc.contributor.authorHill, C.
dc.contributor.authorBrown, M.
dc.contributor.authorHewitt, A.
dc.date.issued2014
dc.descriptionPublished online 15 May 2014
dc.description.abstractGiant 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.
dc.description.statementofresponsibilityK Cremin, P Leo, J E Harris, E De Smit, L Bradbury, P McKelvie, C L Hill, M A Brown and A W Hewitt
dc.identifier.citationGenes and Immunity, 2014; 15(5):338-340
dc.identifier.doi10.1038/gene.2014.19
dc.identifier.issn1466-4879
dc.identifier.issn1476-5470
dc.identifier.orcidHill, C. [0000-0001-8289-4922]
dc.identifier.urihttp://hdl.handle.net/2440/92134
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2014 Macmillan Publishers Limited
dc.source.urihttps://doi.org/10.1038/gene.2014.19
dc.subjectTemporal Arteries
dc.subjectHumans
dc.subjectReproducibility of Results
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAged
dc.subjectGiant Cell Arteritis
dc.subjectGenome-Wide Association Study
dc.subjectGenotyping Techniques
dc.titleUtility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis
dc.typeJournal article
pubs.publication-statusPublished

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