Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis.
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.
The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
K
K
Cremin
The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
P
P
Leo
The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
J E
JE
Harris
Clinical Genetics Unit, Centre for Eye Research Australia, The University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.
E
E
De Smit
The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
L
L
Bradbury
Department of Pathology, St Vincent's Hospital, University of Melbourne, East Melbourne, Victoria, Australia.
P
P
McKelvie
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.
C L
CL
Hill
The University of Queensland Diamantina Institute, Translational Research Institute, The University of Queensland, Brisbane, Queensland, Australia.
M A
MA
Brown
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.
A W
AW
Hewitt
D000368:Aged; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques / Q000379:methods*; D013700:Giant Cell Arteritis / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D013699:Temporal Arteries / Q000378:metabolism* / Q000473:pathology