Khong, JJ and Burdon, KP and Lu, Y and Laurie, K and Leonardos, L and Baird, PN and Sahebjada, S and Walsh, JP and Gajdatsy, A and Ebeling, PR and Hamblin, PS and Wong, R and Forehan, SP and Fourlanos, S and Roberts, AP and Doogue, M and Selva, D and Montgomery, GW and Macgregor, S and Craig, JE, Pooled genome wide association detects association upstream of FCRL3 with Graves' disease, BMC Genomics, 17, (1) Article 939. ISSN 1471-2164 (2016) [Refereed Article]
Copyright 2016 The Authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/
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.
|Item Type:||Refereed Article|
|Keywords:||Genome-wide association study, Gravesí disease, Pooled blood|
|Research Division:||Biomedical and Clinical Sciences|
|Research Group:||Ophthalmology and optometry|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Burdon, KP (Professor Kathryn Burdon)|
|Web of Science® Times Cited:||5|
|Deposited By:||Menzies Institute for Medical Research|
|Downloads:||137 View Download Statistics|
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