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

K Cremin; P Leo; J E Harris; E De Smit; L Bradbury; P McKelvie; C L Hill; M A Brown; A W Hewitt

doi:10.1038/gene.2014.19

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

Genes Immun. 2014 Jul-Aug;15(5):338-40. doi: 10.1038/gene.2014.19. Epub 2014 May 15.

Authors

K Cremin¹, P Leo¹, J E Harris¹, E De Smit², L Bradbury¹, P McKelvie³, C L Hill⁴, M A Brown¹, A W Hewitt⁵

Affiliations

¹ The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
² Clinical Genetics Unit, Centre for Eye Research Australia, The University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
³ Department of Pathology, St Vincent's Hospital, University of Melbourne, East Melbourne, Victoria, Australia.
⁴ 1] Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia [2] Health Observatory, Department of Medicine, The University of Adelaide, Adelaide, South Australia, Australia.
⁵ 1] Clinical Genetics Unit, Centre for Eye Research Australia, The University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia [2] Genetic and Epidemiology Group, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia.

PMID: 24833304
DOI: 10.1038/gene.2014.19

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.

Publication types

Comparative Study
Evaluation Study
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Genome-Wide Association Study
Genotyping Techniques / methods*
Giant Cell Arteritis / genetics*
Humans
Polymorphism, Single Nucleotide
Reproducibility of Results
Temporal Arteries / metabolism*
Temporal Arteries / pathology