Common Genetic Polymorphisms in the <i>ABCB1</i> Gene Are Associated with Risk of Major Depressive Disorder in Male Portuguese Individuals

Santos, Maria do Carmo; Carvalho, Serafim; Lima, Luís; Nogueira, Augusto; Assis, Joana; Mota-Pereira, Jorge; Pimentel, Paulo; Maia, Dulce; Correia, D.; Gomes, Sofia; Cruz, Agostinho; Medeiros, Rui

doi:10.1089/gtmb.2013.0197

Cited by 19 publications

(17 citation statements)

References 43 publications

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“…In all studied participants, nine different haplotypes were identified, the most common of which were T-T-T and C-G-C. These results differ slightly from the ones obtained in Caucasians (Santos et al 2014) as well as Asian study populations (Kato et al 2008).…”

Section: Discussioncontrasting

confidence: 72%

“…In this study, the genotype and allele frequencies of the first two of the above mentioned polymorphisms in Polish population were evaluated. The indicated frequency of particular genotypes and allele the synonymous C1236T, localized in exon 12 were comparable with Portuguese major depressive disorder (MDD) patients (Santos et al 2014) and relevantly different from Asian patients with depression (Kato et al 2008;Fujii et al 2012;Xie et al 2015). Similar observations were demonstrated for G2677T/A, nonsynonymous triallelic polymor-phism located in exon 21.…”

Section: Discussionmentioning

confidence: 81%

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In-Silico Target Prediction for Hsa-Mir-27a and Identification of Genes Involved In Breast Cancer

Shah¹

2019

IJHG

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The aim was to evaluate the impact of ABCB1 polymorphisms, C1236T and G2677T/A on the incidence of depression, its progression and effectiveness of antidepressant treatment in Polish population. Analyses were performed in 92 patients with recurrent depressive disorder (rDD) using automated sequencing. The obtained data were correlated with the results for C3435T polymorphism published earlier. Following that, a haplotype analysis was performed. For G2677T/A, the severity of depressive symptoms was higher among patients with GG. The more severe course of disease, the more frequently the lack of A or T allele was observed. Moreover, better effectiveness of the therapy was indicated in individuals with 1236 CC as well as in 2677 GG. Additionally, association of C1236T and (C1236T-G2677T/A-C3435T) haplotype with depression development was observed. Simultaneously, G2677T/A was connected with the severity of depressive symptoms. Both of the examined polymorphisms have influence on the effectiveness of antidepressant medications.

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Section: Discussioncontrasting

confidence: 72%

Section: Discussionmentioning

confidence: 81%

In-Silico Target Prediction for Hsa-Mir-27a and Identification of Genes Involved In Breast Cancer

Shah¹

2019

IJHG

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“…It has also been associated with major depression (Fujii et al, 2012;Ozbey et al, 2014;Santos et al, 2014). Furthermore, our recent study showed a significant association between the C3435T MDR1 polymorphism and interpersonal sensitivity, a depression-prone personality trait, in healthy subjects (Enokido et al, 2014).…”

Section: Introductionmentioning

confidence: 90%

C3435T polymorphism of the MDR1 gene is not associated with blood levels of hypothalamus-pituitary-adrenal axis hormones in healthy male subjects

et al. 2017

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ABSTRACT.In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 gene on blood levels of hypothalamus-pituitary-adrenal (HPA) axis hormones such as cortisol and adrenocorticotropic hormone (ACTH) in healthy subjects. The subjects comprised 30 healthy Japanese males. Ten subjects were recruited for each of the C3435T MDR1 genotypes: C/C, C/T, and T/T. Blood samples were taken at 6:00 pm on two occasions with an interval of 2 weeks. Blood levels of cortisol and ACTH were determined by an electrochemiluminescence immunoassay. There were no significant differences in the blood levels of the HPA axis hormones among the MDR1 genotypes. The present study suggests that the C3435T MDR1 polymorphism does not affect blood levels of HPA axis hormones in healthy Japanese males.

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“…They are, for example, critically involved the clearance of Aβ thus being putative molecular targets for AD treatment (Cirrito et al, 2005; Gosselet et al, 2013; Kim et al, 2013; Koldamova et al, 2010; Krohn et al, 2011; Pahnke et al, 2013; Pahnke et al, 2009; Pahnke et al, 2008; Scheffler et al, 2012; Schumacher et al, 2012; Vogelgesang et al, 2002; Vogelgesang et al, 2004). Dysfunction of ABCB1 has been associated with Parkinson’s disease, progressive supranuclear palsy (PSP), multi-systems atrophy (MSA) and very recently genetic associations with depressive disorders were found (Bartels et al, 2008; Enokido et al, 2014; Li et al, 2014; Santos et al, 2014). In accordance with their function as “gatekeepers” at the BBB, ABCB1 and ABCC1 are localized in both the luminal and abluminal membranes of brain capillary endothelial cells, in adjacent pericytes and astrocytes as well as in choroid plexus epithelia and ventricular ependyma (for reviews see (Ballerini et al, 2002; Bendayan et al, 2002; Gazzin et al, 2008; Keep and Smith, 2011; Thiebaut et al, 1987; Wolf et al, 2012)).…”

Section: Introductionmentioning

confidence: 99%

Vascular and extravascular distribution of the ATP-binding cassette transporters ABCB1 and ABCC1 in aged human brain and pituitary

Bernstein

Hölzl

Dobrowolny

et al. 2014

Mechanisms of Ageing and Development

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ATP-binding cassette (ABC) transporters play an increasing role in the understanding of pathologic peptide deposition in neurodegenerative diseases (NDs), such as Alzheimer’s and Parkinson’s. To describe the location of the most important ABC transporters for NDs in human brain tissue, we investigated ABCB1 and ABCC1 immunohistologically in the adult human brain and pituitary. Both transporters have similar but not identical expression patterns. In brain regions with an established blood-brain barrier (BBB), ABCB1 and ABCC1 were ubiquitously expressed in endothelial cells of the microvasculature and in a subset of larger blood vessels (mostly venules). Remarkably, both transporters were also found in fenestrated capillaries in circumventricular organs where the BBB is absent. Moreover, ABCB1 and ABCC1 were also expressed in various non-endothelia cells such as pericytes, astrocytes, choroid plexus epithelia, ventricle ependymal cells, and neurons. With regard to their neuronal expression it was shown that both transporters are located in specific nerve cell populations, which are also immunopositive for three putative cell markers of purinergic cell signalling, namely 5´-nucleotidase, adenosine deaminase and nucleoside triphosphate diphosphohydrolase-2. Therefore, we speculate that neuronal expression of ABCB1 and ABCC1 might be linked to adenosinergic/purinergic neuromodulation. Lastly, both transporters were observed in multiple adenohypophyseal cells.

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Common Genetic Polymorphisms in the ABCB1 Gene Are Associated with Risk of Major Depressive Disorder in Male Portuguese Individuals

Cited by 19 publications

References 43 publications

In-Silico Target Prediction for Hsa-Mir-27a and Identification of Genes Involved In Breast Cancer

In-Silico Target Prediction for Hsa-Mir-27a and Identification of Genes Involved In Breast Cancer

C3435T polymorphism of the MDR1 gene is not associated with blood levels of hypothalamus-pituitary-adrenal axis hormones in healthy male subjects

Vascular and extravascular distribution of the ATP-binding cassette transporters ABCB1 and ABCC1 in aged human brain and pituitary

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