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dc.contributor.authorKhong, JJ
dc.contributor.authorBurdon, KP
dc.contributor.authorLu, Y
dc.contributor.authorLaurie, K
dc.contributor.authorLeonardos, L
dc.contributor.authorBaird, PN
dc.contributor.authorSahebjada, S
dc.contributor.authorWalsh, JP
dc.contributor.authorGajdatsy, A
dc.contributor.authorEbeling, PR
dc.contributor.authorHamblin, PS
dc.contributor.authorWong, R
dc.contributor.authorForehan, SP
dc.contributor.authorFourlanos, S
dc.contributor.authorRoberts, AP
dc.contributor.authorDoogue, M
dc.contributor.authorSelva, D
dc.contributor.authorMontgomery, GW
dc.contributor.authorMacgregor, S
dc.contributor.authorCraig, JE
dc.date.accessioned2021-02-12T01:04:32Z
dc.date.available2021-02-12T01:04:32Z
dc.date.issued2016-11-18
dc.identifierpii: 10.1186/s12864-016-3276-z
dc.identifier.citationKhong, J. J., Burdon, K. P., Lu, Y., Laurie, K., Leonardos, L., Baird, P. N., Sahebjada, S., Walsh, J. P., Gajdatsy, A., Ebeling, P. R., Hamblin, P. S., Wong, R., Forehan, S. P., Fourlanos, S., Roberts, A. P., Doogue, M., Selva, D., Montgomery, G. W., Macgregor, S. & Craig, J. E. (2016). Pooled genome wide association detects association upstream of FCRL3 with Graves' disease. BMC GENOMICS, 17 (1), https://doi.org/10.1186/s12864-016-3276-z.
dc.identifier.issn1471-2164
dc.identifier.urihttp://hdl.handle.net/11343/260931
dc.description.abstractBACKGROUND: 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.
dc.languageEnglish
dc.publisherBMC
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titlePooled genome wide association detects association upstream of FCRL3 with Graves' disease
dc.typeJournal Article
dc.identifier.doi10.1186/s12864-016-3276-z
melbourne.affiliation.departmentMedical Education
melbourne.affiliation.departmentClinical School (Royal Melbourne Hospital)
melbourne.affiliation.departmentMedicine, Western Health
melbourne.affiliation.departmentOphthalmology (Eye & Ear Hospital)
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleBMC Genomics
melbourne.source.volume17
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1117212
melbourne.contributor.authorEbeling, Peter
melbourne.contributor.authorForehan, Simon
melbourne.contributor.authorHamblin, Peter
melbourne.contributor.authorKhong, Jwu
melbourne.contributor.authorFourlanos, Spiros
melbourne.contributor.authorBaird, Paul
melbourne.contributor.authorWONG, ROSEMARY
melbourne.contributor.authorSahebjada, Srujana
dc.identifier.eissn1471-2164
melbourne.accessrightsOpen Access


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