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Kalirin: a novel genetic risk factor for ischemic stroke

dc.contributor.authorKrug, T
dc.contributor.authorManso, H
dc.contributor.authorGouveia, L
dc.contributor.authorSobral, J
dc.contributor.authorXavier, JM
dc.contributor.authorAlbergaria, I
dc.contributor.authorGaspar, G
dc.contributor.authorCorreia, M
dc.contributor.authorViana-Baptista, M
dc.contributor.authorSimões, RN
dc.contributor.authorPinto, AN
dc.contributor.authorTaipa, R
dc.contributor.authorFerreira, C
dc.contributor.authorFontes, JR
dc.contributor.authorSilva, MR
dc.contributor.authorGabriel, JP
dc.contributor.authorMatos, I
dc.contributor.authorLopes, G
dc.contributor.authorFerro, JM
dc.contributor.authorVicente, AM
dc.contributor.authorOliveira, SA
dc.date.accessioned2013-12-13T11:43:17Z
dc.date.available2013-12-13T11:43:17Z
dc.date.issued2010
dc.description.abstractCerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been performed in stroke patients. KALRN is involved, among others, in the inhibition of inducible nitric oxide synthase, in the regulation of ischemic signal transduction, and in neuronal morphogenesis, plasticity, and stability. The goal of the present study was to determine whether SNPs in the KALRN region on 3q13, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls. We genotyped 34 tagging SNPs in the KALRN and ROPN1 chromosomal region on 565 IS patients and 517 unrelated controls, and performed genotype imputation for 405 markers on chromosome 3. We tested the single-marker association of these SNPs with IS. One SNP (rs4499545) in the ROPN1-KALRN intergenic region and two SNPs in KALRN (rs17286604 and rs11712619) showed significant (P < 0.05) allelic and genotypic (unadjusted and adjusted for hypertension, diabetes, and ever smoking) association with IS risk. Thirty-two imputed SNPs also showed an association at P < 0.05, and actual genotyping of three of these polymorphisms (rs7620580, rs6438833, and rs11712039) validated their association. Furthermore, rs11712039 was associated with IS (0.001 < P < 0.01) in a recent well-powered genomewide association study (Ikram et al. 2009). These studies suggest that variants in the KALRN gene region constitute risk factors for stroke and that KALRN may represent a common risk factor for vascular diseases.por
dc.identifier.citationHum Genet. 2010;127(5):513-23.por
dc.identifier.urihttp://hdl.handle.net/10400.26/5069
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringerpor
dc.subjectIsquemia Cerebralpor
dc.subjectFactores de Troca do Nucleotídeo Guaninapor
dc.subjectProteínas de Membranapor
dc.subjectPolimorfismo de Nucleotídeo Únicopor
dc.subjectProteínas Serina-Treonina Quinasespor
dc.subjectAcidente Vascular Cerebralpor
dc.titleKalirin: a novel genetic risk factor for ischemic strokepor
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F64426%2F2006/PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isProjectOfPublicationb77e3e7e-dc11-46d1-86cf-54485ae47cc5
relation.isProjectOfPublication.latestForDiscoveryb77e3e7e-dc11-46d1-86cf-54485ae47cc5

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