Autor(es):
Santos, Marlene 
; Carvalho, Serafim ; Lima, Luís ; Nogueira, Augusto ; Assis, Joana ; Mota-Pereira, Jorge ; Pimentel, Paulo ; Maia, Dulce ; Correia, Diana ; Gomes, Sofia ; Cruz, Agostinho ; Medeiros, Rui
Data: 2014
Identificador Persistente: http://hdl.handle.net/10400.22/3269
Origem: Repositório Científico do Instituto Politécnico do Porto
Descrição
Major 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.
