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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
2012 Impact Factor: 3.396
2012 SCImago Journal Rankings: 1.175
 
DOIhttp://dx.doi.org/10.1111/j.1365-2265.2005.02442.x
 
ISI Accession Number IDWOS:000234737300009
 
ReferencesReferences in Scopus
 
DC FieldValue
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
2012 Impact Factor: 3.396
2012 SCImago Journal Rankings: 1.175
 
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
 
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<description.abstract>Objective: 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&apos; 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&#8242; 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. &#169; 2006 Blackwell Publishing Ltd.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong