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|Scopus||Web of Science®||Altmetric|
|Title:||Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis|
De Smit, E.
|Citation:||Genes and Immunity, 2014; 15(5):338-340|
|Publisher:||Nature Publishing Group|
|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.|
Reproducibility of Results
Polymorphism, Single Nucleotide
Giant Cell Arteritis
Genome-Wide Association Study
|Description:||Published online 15 May 2014|
|Rights:||© 2014 Macmillan Publishers Limited|
|Appears in Collections:||Aurora harvest 2|
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