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

journal contribution
posted on 2023-05-18, 05:00 authored by Cremin, K, Leo, P, Harris, JE, De Smit, E, Bradbury, L, McKelvie, P, Hill, CL, Brown, MA, Alexander HewittAlexander Hewitt
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.

History

Publication title

Genes and Immunity

Volume

15

Issue

5

Pagination

338-340

ISSN

1466-4879

Department/School

Tasmanian School of Medicine

Publisher

Nature Publishing Group

Place of publication

Macmillan Building, 4 Crinan St, London, England, N1 9Xw

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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