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Type: Journal article
Title: Pooled genome wide association detects association upstream of FCRL3 with Graves' disease
Author: Khong, J.
Burdon, K.
Lu, Y.
Laurie, K.
Leonardos, L.
Baird, P.
Sahebjada, S.
Walsh, J.
Gajdatsy, A.
Ebeling, P.
Hamblin, P.
Wong, R.
Forehan, S.
Fourlanos, S.
Roberts, A.
Doogue, M.
Selva, D.
Montgomery, G.
Macgregor, S.
Craig, J.
Citation: BMC Genomics, 2016; 17(1):939-1-939-10
Publisher: BioMed Central
Issue Date: 2016
ISSN: 1471-2164
Statement of
Jwu Jin Khong, Kathryn P. Burdon, Yi Lu, Kate Laurie, Lefta Leonardos, Paul N. Baird, Srujana Sahebjada, John P. Walsh, Adam Gajdatsy, Peter R. Ebeling, Peter Shane Hamblin, Rosemary Wong, Simon P. Forehan, Spiros Fourlanos, Anthony P. Roberts, Matthew Doogue, Dinesh Selva, Grant W. Montgomery, Stuart Macgregor and Jamie E. Craig
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 non-Major Histo-compatablity complex single nucleotide polymorphisms with individual genotyping in the discovery cohort revealed four single nucleotide polymorphisms with p ≤ 10(-4). Rs17676303 on chromosome 1q23.1, located upstream of FCRL3, showed evidence of association with Graves' disease across the discovery, replication and combined cohorts. A second single nucleotide polymorphism rs9644119 downstream of DPYSL2 showed some evidence of association supported by finding in the replication cohort that warrants further study. Conclusions: Pooled genome wide association study identified a genetic variant upstream of FCRL3 as a susceptibility locus for Graves' disease in addition to those identified in the Major Histo-compatibility Complex. A second locus downstream of DPYSL2 is potentially a novel genetic variant in Graves' disease that requires further confirmation.
Keywords: Genome-wide association study
Graves’ disease
Pooled blood
Rights: © The Author(s). 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
DOI: 10.1186/s12864-016-3276-z
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