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Article: Association of novel single nucleotide polymorphisms in the calcium channel α1 subunit gene (Cav1.1) and thyrotoxic periodic paralysis

TitleAssociation of novel single nucleotide polymorphisms in the calcium channel α1 subunit gene (Cav1.1) and thyrotoxic periodic paralysis
Authors
Issue Date2004
PublisherThe Endocrine Society. The Journal's web site is located at http://jcem.endojournals.org
Citation
Journal Of Clinical Endocrinology And Metabolism, 2004, v. 89 n. 3, p. 1340-1345 How to Cite?
AbstractThyrotoxic (hypokalemic) periodic paralysis (TPP) is a frequent complication of thyrotoxicosis among Chinese men. To determine the genetic association of TPP, we studied 97 male TPP patients, 77 Graves' disease patients without TPP, and 100 normal male subjects. Mutations of the voltage-dependent calcium channel (Cav1.1), sodium channel (Na v1.4), and potassium channel (Kv3.4), and association of the microsatellite markers on chromosome 1 in the region of the Na/K-ATPase subunits α1, α2, and β1 were studied. None of the TPP patients carried the known mutations in Cav1.1, Nav.1.4, and K v3.4 genes. There was no association of TPP with the microsatellite markers that mapped to 1p13, 1q21-23, and 1q22-25. We detected 12 single nucleotide polymorphisms (SNPs) in Cav1.1 in our population, of which three were novel. Significant differences in the SNP genotype distribution between TPP compared with Graves' disease controls and normal controls were seen at the 5′ flanking region nucleotide (nt) -476 (P = 0.02), intron 2 nt 57 (P < 0.01), and intron 26 nt 67 (P < 0.001). Because these SNPs lie at or near the thyroid hormone responsive element, it is possible that they may affect the binding affinity of the thyroid hormone responsive element and modulate the stimulation of thyroid hormone on the Cav1.1 gene.
Persistent Identifierhttp://hdl.handle.net/10722/162810
ISSN
2015 Impact Factor: 5.531
2015 SCImago Journal Rankings: 2.940
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKung, AWCen_US
dc.contributor.authorLau, KSen_US
dc.contributor.authorFong, GCYen_US
dc.contributor.authorChan, Ven_US
dc.date.accessioned2012-09-05T05:23:49Z-
dc.date.available2012-09-05T05:23:49Z-
dc.date.issued2004en_US
dc.identifier.citationJournal Of Clinical Endocrinology And Metabolism, 2004, v. 89 n. 3, p. 1340-1345en_US
dc.identifier.issn0021-972Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/162810-
dc.description.abstractThyrotoxic (hypokalemic) periodic paralysis (TPP) is a frequent complication of thyrotoxicosis among Chinese men. To determine the genetic association of TPP, we studied 97 male TPP patients, 77 Graves' disease patients without TPP, and 100 normal male subjects. Mutations of the voltage-dependent calcium channel (Cav1.1), sodium channel (Na v1.4), and potassium channel (Kv3.4), and association of the microsatellite markers on chromosome 1 in the region of the Na/K-ATPase subunits α1, α2, and β1 were studied. None of the TPP patients carried the known mutations in Cav1.1, Nav.1.4, and K v3.4 genes. There was no association of TPP with the microsatellite markers that mapped to 1p13, 1q21-23, and 1q22-25. We detected 12 single nucleotide polymorphisms (SNPs) in Cav1.1 in our population, of which three were novel. Significant differences in the SNP genotype distribution between TPP compared with Graves' disease controls and normal controls were seen at the 5′ flanking region nucleotide (nt) -476 (P = 0.02), intron 2 nt 57 (P < 0.01), and intron 26 nt 67 (P < 0.001). Because these SNPs lie at or near the thyroid hormone responsive element, it is possible that they may affect the binding affinity of the thyroid hormone responsive element and modulate the stimulation of thyroid hormone on the Cav1.1 gene.en_US
dc.languageengen_US
dc.publisherThe Endocrine Society. The Journal's web site is located at http://jcem.endojournals.orgen_US
dc.relation.ispartofJournal of Clinical Endocrinology and Metabolismen_US
dc.subject.mesh5' Flanking Region - Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshCalcium Channels - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 1en_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeatsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMuscle Proteins - Geneticsen_US
dc.subject.meshParalyses, Familial Periodic - Geneticsen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshPotassium Channels - Geneticsen_US
dc.subject.meshPotassium Channels, Voltage-Gateden_US
dc.subject.meshShaw Potassium Channelsen_US
dc.subject.meshSodium Channels - Geneticsen_US
dc.subject.meshThyrotoxicosis - Geneticsen_US
dc.titleAssociation of novel single nucleotide polymorphisms in the calcium channel α1 subunit gene (Cav1.1) and thyrotoxic periodic paralysisen_US
dc.typeArticleen_US
dc.identifier.emailKung, AWC:awckung@hku.hken_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityKung, AWC=rp00368en_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1210/jc.2003-030924en_US
dc.identifier.pmid15001631-
dc.identifier.scopuseid_2-s2.0-1642365758en_US
dc.identifier.hkuros87824-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-1642365758&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume89en_US
dc.identifier.issue3en_US
dc.identifier.spage1340en_US
dc.identifier.epage1345en_US
dc.identifier.isiWOS:000220030700050-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridKung, AWC=7102322339en_US
dc.identifier.scopusauthoridLau, KS=35205833900en_US
dc.identifier.scopusauthoridFong, GCY=7004978754en_US
dc.identifier.scopusauthoridChan, V=7202654865en_US

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