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

Cremin, K., Leo, P., Harris, J. E., De Smit, E., Bradbury, L., McKelvie, P., Hill, C. L., Brown, M.A., & Hewitt, A. W. (2014) Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis. Genes and Immunity, 15(5), pp. 338-340.

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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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ID Code: 89077
Item Type: Journal Article
Refereed: Yes
Keywords: double stranded DNA, formaldehyde, article, blood sampling, blood vessel biopsy, clinical article, DNA damage, DNA extraction, genetic analysis, genetic association, genotype, giant cell arteritis, heterozygote, homozygote, human, human tissue, priority journal, quality control, real time polymerase chain reaction, reproducibility, signal noise ratio, single nucleotide polymorphism, temporal artery, tissue microarray, aged, comparative study, evaluation study, genetics, genotyping technique, metabolism, pathology, procedures, DNA determination, genome analysis, microarray analysis, microarray kit, Genome-Wide Association Study, Genotyping Techniques, Humans, Polymorphism, Single Nucleotide, Reproducibility of Results, Temporal Arteries
DOI: 10.1038/gene.2014.19
ISSN: 1466-4879
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 15 Oct 2015 23:12
Last Modified: 17 Feb 2016 04:44

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