Article: Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes

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TitleThyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes
AuthorsKung, AWC1
Lau, KS1
Cheung, WMW1
Chan, V1
Issue Date2006
PublisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0300-0664
CitationClinical Endocrinology, 2006, v. 64 n. 2, p. 158-161 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1365-2265.2005.02442.x
AbstractObjective: Thyrotoxic periodic paralysis (TPP) is a complication of hyperthyroidism association with recurrent, reversible episodes of muscle weakness. Increased sodium-potassium ATPase (Na/K-ATPase) pump activity is postulated to contribute to the hypokalaemic paralytic attacks in TPP. The aim of this study was to determine the genetic predisposition to TPP in relation to Na/K-ATPase genes. Design: A case-control association study. Patients: Ninety-nine male Chinese TPP patients were compared to 84 male Graves' disease (GD) patients without TPP and 100 normal male controls. Measurement: A total of 1500 base pairs upstream of the transcriptional start site of the five Na/K-ATPase genes that are expressed in the skeletal muscles, namely ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4, were sequenced in all subjects for mutations or polymorphisms. The single nucleotide polymorphisms (SNPs) of the coding regions of the five genes were also studied for association with TPP. Results: No mutations were detected in the 5′ regions of the five genes in any of the patients studied. There was no difference in the distribution of SNPs and SNP haplotypes in the upstream and coding region of these genes between the three groups of subjects. Conclusion: No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected. © 2006 Blackwell Publishing Ltd.
ISSN0300-0664
2011 Impact Factor: 3.168
2011 SCImago Journal Rankings: 0.278
DOIhttp://dx.doi.org/10.1111/j.1365-2265.2005.02442.x
ISI Accession Number IDWOS:000234737300009
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorKung, AWC
dc.contributor.authorLau, KS
dc.contributor.authorCheung, WMW
dc.contributor.authorChan, V
dc.date.accessioned2010-09-06T07:24:50Z
dc.date.available2010-09-06T07:24:50Z
dc.date.issued2006
dc.description.abstractObjective: Thyrotoxic periodic paralysis (TPP) is a complication of hyperthyroidism association with recurrent, reversible episodes of muscle weakness. Increased sodium-potassium ATPase (Na/K-ATPase) pump activity is postulated to contribute to the hypokalaemic paralytic attacks in TPP. The aim of this study was to determine the genetic predisposition to TPP in relation to Na/K-ATPase genes. Design: A case-control association study. Patients: Ninety-nine male Chinese TPP patients were compared to 84 male Graves' disease (GD) patients without TPP and 100 normal male controls. Measurement: A total of 1500 base pairs upstream of the transcriptional start site of the five Na/K-ATPase genes that are expressed in the skeletal muscles, namely ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4, were sequenced in all subjects for mutations or polymorphisms. The single nucleotide polymorphisms (SNPs) of the coding regions of the five genes were also studied for association with TPP. Results: No mutations were detected in the 5′ regions of the five genes in any of the patients studied. There was no difference in the distribution of SNPs and SNP haplotypes in the upstream and coding region of these genes between the three groups of subjects. Conclusion: No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected. © 2006 Blackwell Publishing Ltd.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationClinical Endocrinology, 2006, v. 64 n. 2, p. 158-161 [How to Cite?]
DOI: http://dx.doi.org/10.1111/j.1365-2265.2005.02442.x
dc.identifier.citeulike472414
dc.identifier.doihttp://dx.doi.org/10.1111/j.1365-2265.2005.02442.x
dc.identifier.epage161
dc.identifier.hkuros114783
dc.identifier.isiWOS:000234737300009
dc.identifier.issn0300-0664
2011 Impact Factor: 3.168
2011 SCImago Journal Rankings: 0.278
dc.identifier.issue2
dc.identifier.openurl
dc.identifier.pmid16430714
dc.identifier.scopuseid_2-s2.0-33645024086
dc.identifier.spage158
dc.identifier.urihttp://hdl.handle.net/10722/76780
dc.identifier.volume64
dc.languageeng
dc.publisherWiley-Blackwell Publishing Ltd.. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=0300-0664
dc.publisher.placeUnited Kingdom
dc.relation.ispartofClinical Endocrinology
dc.relation.referencesReferences in Scopus
dc.rightsClinical Endocrinology. Copyright © Blackwell Publishing Ltd.
dc.subject.meshAdenosine Triphosphatases - genetics
dc.subject.meshAdult
dc.subject.meshBase Sequence
dc.subject.meshCase-Control Studies
dc.subject.meshCation Transport Proteins - genetics
dc.subject.meshCell Adhesion Molecules, Neuronal - genetics
dc.subject.meshGene Frequency
dc.subject.meshGraves Disease - genetics
dc.subject.meshHaplotypes
dc.subject.meshHumans
dc.subject.meshHypokalemic Periodic Paralysis - enzymology - genetics
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPolymorphism, Single Nucleotide - genetics
dc.subject.meshProtein Subunits - genetics
dc.subject.meshSodium-Potassium-Exchanging ATPase - genetics
dc.titleThyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes
dc.typeArticle
Author Affiliations
  1. The University of Hong Kong