A polymorphic GT short tandem repeat affecting beta-ENaC mRHA expression is associated with low renin essential hypertension

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dc.contributor.authorGonzalez, Alexis A.
dc.contributor.authorCarvajal, Cristian A.
dc.contributor.authorRiquelme, Erick
dc.contributor.authorKrall, Paola M.
dc.contributor.authorMunoz, Carlos R.
dc.contributor.authorMosso, Lorena M.
dc.contributor.authorKalergis, Alexis M.
dc.contributor.authorFardella, Carlos E.
dc.date.accessioned2024-01-10T12:04:16Z
dc.date.available2024-01-10T12:04:16Z
dc.date.issued2007
dc.description.abstractBackground: The epithelial sodium channel (ENaC) is a candidate gene associated with the development of essential hypertension. A potentially polymorphic repetitive region (GT dinucleotide short tandem repeat [STR]) was identified in intron 8 of beta-ENaC gene (SCNN I B). The aim of this study was to identify the prevalence and distribution of a polymorphic GT-STR in SCNN1B in Chilean essential hypertensive (EH) patients and to analyze the correlation between the different genotypes with plasma renin activity (PRA) and serum aldosterone (SA), and furthermore, to evaluate the beta-ENaC gene expression in vitro.
dc.description.abstractMethods: We studied 133 patients with EH and 69 normotensive (NT). In both EH and NT subjects we measured PRA, SA, urine sodium, and genotyped them according to the GT-STR length using sequencing analysis. We detected 11, 13 and 14 GT alleles in EH and NT subjects. Both groups were classified according to genotype: 14/14, 14/13, 13/13, 13/11, and 11/11. Influence of the GT-STR on beta-ENaC minigene expression was evaluated by real-time polymerase chain reaction.
dc.description.abstractResults: In EH, PRA decreased with the length of the STR region 11/13,1.40 +/- 0.69; 13/13, 1.16 +/- 0.61; 13/14, 0.90 +/- 0.56; 14/14, 0.32 +/- 0.09 ng/mL/h; P < .01. Likewise, PRA in patients with EH with 14/14 or 14/13 orenotypes were lower than EH with 13/13 or 13/11 genotypes (0.77 +/- 0.5 v 1.24 +/- 0.6 ng/mL/h; P < .01). Real-time polymerase chain reaction demonstrated an increased beta-ENaC expression in minigenes containing 14 GT-STR.
dc.description.abstractConclusions: We have identified a polymorphic GT-STR in the beta-ENaC gene, which is present in the EH and NT Chilean population. Biochemical analysis showed a possible linkage between this polymorphic region and low renin hypertension. The in vitro assay suggests that GT-STR could regulate the beta-ENaC expression. Am J Hypertens 2007;20:800-806 (c) 2007 American Journal of Hypertension, Ltd.
dc.fechaingreso.objetodigital2024-03-19
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1016/j.amjhyper.2007.02.019
dc.identifier.eissn1941-7225
dc.identifier.issn0895-7061
dc.identifier.pubmedidMEDLINE:17586416
dc.identifier.urihttps://doi.org/10.1016/j.amjhyper.2007.02.019
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/75745
dc.identifier.wosidWOS:000247979900014
dc.information.autorucMedicina;Carvajal C;S/I;8586
dc.information.autorucMedicina;Fardella C;S/I;66235
dc.information.autorucCiencias Biológicas;González A;S/I;11971
dc.information.autorucCiencias Biológicas;Kalergis A;S/I;90610
dc.information.autorucMedicina;Mosso L;S/I;88201
dc.issue.numero7
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final806
dc.pagina.inicio800
dc.publisherOXFORD UNIV PRESS
dc.revistaAMERICAN JOURNAL OF HYPERTENSION
dc.rightsacceso restringido
dc.subjectlow renin hypertension
dc.subjectrenin activity
dc.subjectaldosterone
dc.subjectepithelial sodium channel (ENaC)
dc.subjectpolymorphism
dc.subjectminigene
dc.subjectEPITHELIAL SODIUM-CHANNEL
dc.subjectHYDROXYSTEROID DEHYDROGENASE TYPE-2
dc.subjectGAMMA-SUBUNIT
dc.subjectHSD11B2
dc.subjectLINKAGE
dc.subjectT594M
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleA polymorphic GT short tandem repeat affecting beta-ENaC mRHA expression is associated with low renin essential hypertension
dc.typeartículo
dc.volumen20
sipa.codpersvinculados8586
sipa.codpersvinculados66235
sipa.codpersvinculados11971
sipa.codpersvinculados90610
sipa.codpersvinculados88201
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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