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Article: Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3

TitleGenome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3
Authors
Issue Date2012
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2012, v. 44 n. 9, p. 1026-1029 How to Cite?
AbstractThyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of thyrotoxicosis. We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P meta-analysis = 1.8 × 10-14). All subjects with TPP also had Graves' disease, and subsequent TPP versus Graves' disease comparison confirmed that the association at 17q24.3 was specific to TPP. The area under the curve (AUC) of rs312691 genotype for risk prediction of TPP in subjects with Graves' disease was 0.73. Expression quantitative trait locus (eQTL) analysis identified SNPs in the region flanking rs312691 (Â ±10 kb) that could potentially affect KCNJ2 expression (P = 0.0001). Our study has identified a susceptibility locus associated with TPP and provides insight into the causes of TPP. © 2012 Nature America, Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/175991
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorCheung, CLen_HK
dc.contributor.authorLau, KSen_HK
dc.contributor.authorHo, AYYen_HK
dc.contributor.authorLee, KKen_HK
dc.contributor.authorTiu, SCen_HK
dc.contributor.authorLau, EYFen_HK
dc.contributor.authorLeung, Jen_HK
dc.contributor.authorTsang, MWen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorYeung, CYen_HK
dc.contributor.authorWoo, YCen_HK
dc.contributor.authorCheung, EYNen_HK
dc.contributor.authorHung, VHFen_HK
dc.contributor.authorPang, HKen_HK
dc.contributor.authorHung, CSen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorKung, AWCen_HK
dc.date.accessioned2012-11-26T09:03:33Z-
dc.date.available2012-11-26T09:03:33Z-
dc.date.issued2012en_HK
dc.identifier.citationNature Genetics, 2012, v. 44 n. 9, p. 1026-1029en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/175991-
dc.description.abstractThyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of thyrotoxicosis. We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P meta-analysis = 1.8 × 10-14). All subjects with TPP also had Graves' disease, and subsequent TPP versus Graves' disease comparison confirmed that the association at 17q24.3 was specific to TPP. The area under the curve (AUC) of rs312691 genotype for risk prediction of TPP in subjects with Graves' disease was 0.73. Expression quantitative trait locus (eQTL) analysis identified SNPs in the region flanking rs312691 (Â ±10 kb) that could potentially affect KCNJ2 expression (P = 0.0001). Our study has identified a susceptibility locus associated with TPP and provides insight into the causes of TPP. © 2012 Nature America, Inc. All rights reserved.en_HK
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshAdulten_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshChromosomes, Human, Pair 17 - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenetic Predisposition to Diseaseen_HK
dc.subject.meshGenome-Wide Association Studyen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshHumansen_HK
dc.subject.meshLinkage Disequilibriumen_HK
dc.subject.meshMaleen_HK
dc.subject.meshParalyses, Familial Periodic - ethnology - etiology - geneticsen_HK
dc.subject.meshPolymorphism, Single Nucleotide - physiologyen_HK
dc.subject.meshPotassium Channels, Inwardly Rectifying - geneticsen_HK
dc.subject.meshQuantitative Trait Loci - genetics - physiologyen_HK
dc.subject.meshThyrotoxicosis - complications - ethnology - geneticsen_HK
dc.titleGenome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3en_HK
dc.typeArticleen_HK
dc.identifier.emailCheung, CL: lung1212@hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailKung, AWC: awckung@hku.hken_HK
dc.identifier.authorityCheung, CL=rp01749en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityKung, AWC=rp00368en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1038/ng.2367en_HK
dc.identifier.pmid22863731-
dc.identifier.scopuseid_2-s2.0-84865680031en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84865680031&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume44en_HK
dc.identifier.issue9en_HK
dc.identifier.spage1026en_HK
dc.identifier.epage1029en_HK
dc.identifier.isiWOS:000308491200014-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCheung, CL=14520953400en_HK
dc.identifier.scopusauthoridLau, KS=35205833900en_HK
dc.identifier.scopusauthoridHo, AYY=55349909400en_HK
dc.identifier.scopusauthoridLee, KK=14629086000en_HK
dc.identifier.scopusauthoridTiu, SC=7003310747en_HK
dc.identifier.scopusauthoridLau, EYF=55350034900en_HK
dc.identifier.scopusauthoridLeung, J=55325795900en_HK
dc.identifier.scopusauthoridTsang, MW=7102712282en_HK
dc.identifier.scopusauthoridChan, KW=35188519500en_HK
dc.identifier.scopusauthoridYeung, CY=55324888300en_HK
dc.identifier.scopusauthoridWoo, YC=55325724900en_HK
dc.identifier.scopusauthoridCheung, EYN=9942706500en_HK
dc.identifier.scopusauthoridHung, VHF=55350153100en_HK
dc.identifier.scopusauthoridPang, HK=27067968700en_HK
dc.identifier.scopusauthoridHung, CS=7403166536en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridKung, AWC=7102322339en_HK
dc.identifier.citeulike11183764-

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