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Bipolar disorder and 1513A>C P2RX7 polymorphism frequency
Carolina Gubert1, Roberta Andrejew1, Cesar Eduardo Jacintho Moritz2
1Programa 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.
Neuroscience Letters
|December 7, 2018
Summary
Genetic variations in the P2X7 receptor (P2RX7) may influence Bipolar Disorder (BD) risk. This study found altered P2RX7 polymorphism frequencies in BD patients, suggesting a role in the disorder
Area of Science:
- Neuroscience
- Genetics
- Psychiatry
Background:
- Bipolar Disorder (BD) etiology is unknown, but genetics play a significant role.
- The purinergic P2X7 receptor (P2X7R), a pro-inflammatory receptor, is a candidate risk gene for BD.
- P2X7R dysfunction may contribute to BD pathogenesis.
Purpose of the Study:
- To investigate the frequency of the P2RX7 1513A>C polymorphism (rs3751143; Glu496Ala) in BD patients and controls.
- To analyze P2X7R modulation in euthymic BD patients compared to healthy controls.
- To explore P2X7R's potential as a biomarker for BD prediction and diagnosis.
Main Methods:
- Genotyping analysis of the P2RX7 1513A>C polymorphism in 154 BD patients and 184 controls.
- Assessment of P2X7R gene and protein expression in 22 euthymic BD patients and 18 healthy controls.
Main Results:
- A decreased 1513C allele frequency (p=0.045) and a potential increase in 1513A>A/AC genotype frequency (p=0.055) were observed in BD patients.
- These findings suggest enhanced function of the pro-inflammatory P2X7R in BD subjects.
- No significant differences in P2RX7 gene or protein expression were found between euthymic BD patients and controls.
Conclusions:
- The P2X7 receptor (P2X7R) may be implicated in the pathophysiology of Bipolar Disorder.
- The P2RX7 1513A>C polymorphism warrants further investigation as a potential biomarker for BD.
- This study contributes to understanding the role of P2X7R in BD risk and diagnosis.
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