Journal article
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease
JJ Khong, KP Burdon, Y Lu, K Laurie, L Leonardos, PN Baird, S Sahebjada, JP Walsh, A Gajdatsy, PR Ebeling, PS Hamblin, R Wong, SP Forehan, S Fourlanos, AP Roberts, M Doogue, D Selva, GW Montgomery, S Macgregor, JE Craig
BMC Genomics | BMC | Published : 2016
Abstract
Background: Graves' disease is an autoimmune thyroid disease of complex inheritance. Multiple genetic susceptibility loci are thought to be involved in Graves' disease and it is therefore likely that these can be identified by genome wide association studies. This study aimed to determine if a genome wide association study, using a pooling methodology, could detect genomic loci associated with Graves' disease. Results: Nineteen of the top ranking single nucleotide polymorphisms including HLA-DQA1 and C6orf10, were clustered within the Major Histo-compatibility Complex region on chromosome 6p21, with rs1613056 reaching genome wide significance (p=5×10-8). Technical validation of top ranking n..
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Awarded by Australian Research Council
Funding Acknowledgements
Ophthalmic Research Institute of Australia (JJK), National Health and Medical Research Council of Australia (JC), Australian Research Council Fellowship (SM), National Health and Medical Research Council of Australia Fellowship (GM and 1028444 to PNB), Early Career Fellowship (YL), University of Melbourne Early Career Researcher (SS) and Australian Postgraduate Award (JJK). Centre of Eye Research Australia receives operational infrastructure support from the Victorian Government.