Mitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorCARDENA, M. M. S. G.
dc.contributor.authorRIBEIRO-DOS-SANTOS, A. K.
dc.contributor.authorSANTOS, S. E. B.
dc.contributor.authorMANSUR, A. J.
dc.contributor.authorBERNARDEZ-PEREIRA, S.
dc.contributor.authorSANTOS, P. C. J. L.
dc.contributor.authorPEREIRA, A. C.
dc.contributor.authorFRIDMAN, C.
dc.date.accessioned2016-07-04T13:56:06Z
dc.date.available2016-07-04T13:56:06Z
dc.date.issued2016
dc.description.abstractThere is a high prevalence of heart failure (HF) in the general population, but it is more common in black people. We evaluated the association between genomic ancestry and mitochondrial haplogroups (mt-haplogroups) with HF etiology in 503 Brazilian patients. We elicited Mt-haplogroups by analyzing the control region of mitochondrial DNA, and genomic ancestry, by using 48 autosomal insertiondeletion ancestry informative markers. Hypertensive (28.6%, n = 144) and ischemic (28.4%, n = 143) etiologies of HF were the most prevalent herein. Our results showed that 233 individuals (46.3%) presented African mitochondrial (mt)-haplogroups, and the major contribution in the genomic ancestry analysis was the European ancestry (57.5% (+/- 22.1%)). African mt-haplogroups were positively associated with a diagnosis of hypertensive cardiomyopathy (odds ratio, OR 1.55, confidence interval, CI 95% 1.04-2.44, P = 0.04) when compared with European mt-haplogroups. Regarding the genomic ancestry, the African ancestry variant had higher risks (OR 7.84, 95% CI 2.81-21.91, P < 0.001), whereas the European ancestry variant had lower risks (OR 0.14, 95% CI 0.04-5.00, P < 0.001) for developing the hypertensive etiology. In addition, European ancestry showed an OR of 4.05 (CI 95% 1.53-10.74, P = 0.005), whereas African ancestry showed an OR of 0.17 (CI 95% 0.06-0.48, P = 0.001) for developing ischemic etiology. In conclusion, this study supports the importance of using ancestry informative markers and mitochondrial DNA to study the genetics of complex diseases in admixed populations to improve the management, treatment and prevention of these illnesses. Therefore, the ancestry informative markers and mt-haplogroups could provide new biomarkers to be associated with HF etiologies and be used as a premise for more specific management.
dc.description.indexMEDLINE
dc.description.sponsorshipFAPESP (Fundacao de Amparo a Pesquisa do Estado de Sao Paulo)
dc.description.sponsorshipCAPES (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
dc.description.sponsorshipHC-LIM/FMUSP
dc.identifier.citationJOURNAL OF HUMAN HYPERTENSION, v.30, n.2, p.120-123, 2016
dc.identifier.doi10.1038/jhh.2015.39
dc.identifier.eissn1476-5527
dc.identifier.issn0950-9240
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/13937
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofJournal of Human Hypertension
dc.rightsrestrictedAccess
dc.rights.holderCopyright NATURE PUBLISHING GROUP
dc.subject.otherracial-differences
dc.subject.othermyocardial-infarction
dc.subject.otherwide association
dc.subject.otherblack-americans
dc.subject.otherblood-pressure
dc.subject.otherhypertension
dc.subject.otherrisk
dc.subject.otheradmixture
dc.subject.otherafrican
dc.subject.otheratherosclerosis
dc.subject.wosPeripheral Vascular Disease
dc.titleMitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalRIBEIRO-DOS-SANTOS, A. K.:Fed Univ Para, Lab Human Genet & Med, BR-66059 Belem, Para, Brazil
hcfmusp.author.externalSANTOS, S. E. B.:Fed Univ Para, Lab Human Genet & Med, BR-66059 Belem, Para, Brazil
hcfmusp.citation.scopus6
hcfmusp.contributor.author-fmusphcMARI MAKI SIRIA GODOY CARDENA
hcfmusp.contributor.author-fmusphcALFREDO JOSE MANSUR
hcfmusp.contributor.author-fmusphcSABRINA BERNARDEZ PEREIRA
hcfmusp.contributor.author-fmusphcPAULO CALEB JUNIOR DE LIMA SANTOS
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcCINTIA FRIDMAN RAVE
hcfmusp.description.beginpage120
hcfmusp.description.endpage123
hcfmusp.description.issue2
hcfmusp.description.volume30
hcfmusp.origemWOS
hcfmusp.origem.pubmed25947276
hcfmusp.origem.scopus2-s2.0-84953356946
hcfmusp.origem.wosWOS:000370448900008
hcfmusp.publisher.cityLONDON
hcfmusp.publisher.countryENGLAND
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