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Common genetic polymorphisms in the ABCB1 gene are associated with risk of major depressive disorder in male Portuguese individuals

2014Journal article Open access
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dc.contributor.authorSantos, Marlene
dc.contributor.authorCarvalho, Serafim
dc.contributor.authorLima, Luís
dc.contributor.authorNogueira, Augusto
dc.contributor.authorAssis, Joana
dc.contributor.authorMota-Pereira, Jorge
dc.contributor.authorPimentel, Paulo
dc.contributor.authorMaia, Dulce
dc.contributor.authorCorreia, Diana
dc.contributor.authorGomes, Sofia
dc.contributor.authorCruz, Agostinho
dc.contributor.authorMedeiros, Rui
dc.date.accessioned2014-01-10T10:17:29Z
dc.date.available2014-01-10T10:17:29Z
dc.date.issued2014
dc.description.abstractMajor depressive disorder (MDD) is a highly prevalent disorder, which has been associated with an abnormal response of the hypothalamus–pituitary–adrenal (HPA) axis. Reports have argued that an abnormal HPA axis response can be due to an altered P-Glycoprotein (P-GP) function. This argument suggests that genetic polymorphisms in ABCB1 may have an effect on the HPA axis activity; however, it is still not clear if this influences the risk of MDD. Our study aims to evaluate the effect of ABCB1 C1236T, G2677TA and C3435T genetic polymorphisms on MDD risk in a subset of Portuguese patients. DNA samples from 80 MDD patients and 160 control subjects were genotyped using TaqMan SNP Genotyping assays. A significant protection for MDD males carrying the T allele was observed (C1236T: odds ratio (OR) = 0.360, 95% confidence interval [CI]: [0.140– 0.950], p = 0.022; C3435T: OR= 0.306, 95% CI: [0.096–0.980], p = 0.042; and G2677TA: OR= 0.300, 95% CI: [0.100– 0.870], p = 0.013). Male Portuguese individuals carrying the 1236T/2677T/3435T haplotype had nearly 70% less risk of developing MDD (OR = 0.313, 95% CI: [0.118–0.832], p = 0.016, FDR p = 0.032). No significant differences were observed regarding the overall subjects. Our results suggest that genetic variability of the ABCB1 is associated with MDD development in male Portuguese patients. To the best of our knowledge, this is the first report in Caucasian samples to analyze the effect of these ABCB1 genetic polymorphisms on MDD risk.por
dc.identifier.citationSantos, M., Carvalho, S., Lima, L., Nogueira, A., Assis, J., Mota-Pereira, J., Pimentel, P., Maia, D., Correia, D., Gomes, S., Cruz, A., & Medeiros, R. (2014). Common genetic polymorphisms in the ABCB1 gene are associated with risk of major depressive disorder in male Portuguese individuals. Genetic Testing and Molecular Biomarkers, Vol. 18(No 1), 12–19. https://doi.org/10.1089/gtmb.2013.0197
dc.identifier.doi10.1089/gtmb.2013.0197pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.22/3269
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherMary Ann Liebert, Inc.por
dc.relation.ispartofseriesGenetic Testing and Molecular Biomarkers; Vol. 18, Nº 1
dc.relation.publisherversionhttp://online.liebertpub.com/doi/abs/10.1089/gtmb.2013.0197por
dc.titleCommon genetic polymorphisms in the ABCB1 gene are associated with risk of major depressive disorder in male Portuguese individualspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage19por
oaire.citation.issueNº 1
oaire.citation.startPage12por
oaire.citation.titleGenetic Testing and Molecular Biomarkers
oaire.citation.volumeVol. 18por
person.familyNameSantos
person.familyNameOliveira Lima
person.familyNameCruz
person.givenNameMarlene
person.givenNameLuís Carlos
person.givenNameAgostinho
person.identifier1508370
person.identifier.ciencia-id8311-B967-31C4
person.identifier.ciencia-id9F16-0E29-D9FC
person.identifier.orcid0000-0001-5020-5942
person.identifier.orcid0000-0001-8152-9237
person.identifier.orcid0000-0002-1157-8196
person.identifier.scopus-author-id57110502000
person.identifier.scopus-author-id23501978900
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication8ce9ee39-a4c6-46ae-99e2-49397b550f1b
relation.isAuthorOfPublicationc6b00c1f-f4c9-4f4f-b291-17cf30b1e1f8
relation.isAuthorOfPublicationd7ec3c5d-b3e0-4e34-8e24-4d1588876120
relation.isAuthorOfPublication.latestForDiscovery8ce9ee39-a4c6-46ae-99e2-49397b550f1b

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