Bipolar disorder and 1513A>C P2RX7 polymorphism frequency.

Autor: Gubert C; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, 90035-003 Porto Alegre, RS, Brazil., Andrejew R; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, 90035-003 Porto Alegre, RS, Brazil., Jacintho Moritz CE; Programa de Pós-Graduação em Ciências do Movimento Humano, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Dietrich F; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, 90035-003 Porto Alegre, RS, Brazil., Vasconcelos-Moreno MP; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil., Dos Santos BTMQ; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil., Fijtman A; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil., Kauer-Sant'Anna M; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil., Kapczinski F; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil; Department of Psychiatry and Behavioral Sciences, MacMaster University, Hamilton, Canada., da Silva Magalhães PV; Bipolar Disorder Program and Laboratory of Molecular Psychiatry, Hospital de Clínicas de Porto Alegre, 90035-003, Porto Alegre, RS, Brazil; INCT of Translational Medicine, Hospital de Clínicas de Porto Alegre, 90035-903, RS, Brazil; Departamento de Psiquiatria, Universidade Federal Rio Grande do Sul, 90035-903, RS, Brazil. Electronic address: pedromaga2@gmail.com., Battastini AMO; Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, 90035-003 Porto Alegre, RS, Brazil. Electronic address: abattastini@gmail.com.
Jazyk: angličtina
Zdroj: Neuroscience letters [Neurosci Lett] 2019 Feb 16; Vol. 694, pp. 143-147. Date of Electronic Publication: 2018 Dec 03.
DOI: 10.1016/j.neulet.2018.11.055
Abstrakt: Although the etiology of Bipolar Disorder (BD) remains unknown, a strong genetic component to the pathogenesis and risk for this disorder has been widely hypothesized. Several risk genes for BD have been identified; of these, the purinergic P2 × 7 receptor (P2 × 7R) constitutes a pro-inflammatory receptor and a potential risk gene candidate. The purpose of the present study was to assess the frequency of the 1513 A > C P2RX7 polymorphism (rs3751143; Glu496Ala), which leads to receptor loss-of-function, in 154 BD patients versus 184 control subjects. The existence of a differential modulation of P2 × 7R was also analyzed in 22 euthymic BD patients, in comparison to 18 healthy controls. Our data show a decrease in 1513C allele frequency (p = 0.045) and a potential increase in 1513 A A/AC (p = 0.055) genotype frequency in BD patients, compared to controls, indicating an enhanced function of the pro-inflammatory P2 × 7 receptor in BD subjects. Interestingly, no differences in P2RX7 gene and protein expression were found between euthymic BD patients and matched healthy controls. In conclusion, our results suggest that P2 × 7R might play a role in the pathophysiology of BD and add new information regarding this receptor as a potential biomarker for the prediction and diagnosis of the disorder.
(Copyright © 2018 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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