Comprehensive investigation of the P2X7RGln460Arg missense mutation (rs2230912), which has been associated with major depression and bipolar disorder, has substantially contributed to validate P2X7R as a potential genetic risk factor.
The single nucleotide polymorphisms FKBP5:rs1360780, BDNF:rs6265 (Val66Met), P2RX7:2230912 (Gln460Arg) and CACNA1C:rs1006737 were genotyped in DNA from 457 depression cases (major depression, dysthymia, and mixed anxiety depression) and 2286 healthy controls with no symptom of psychopathology.
Recently, the immune-related gene encoding purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7) has been genetically associated with major depressive disorder and bipolar disorder.
A non-synonymous single nucleotide polymorphism, rs2230912 (P2RX7-E13A, G allele) and a microsatellite marker NBG6 were both previously found to be associated with bipolar disorder (P=0.00071 and 0.008, respectively). rs2230912 has also been found to show association with unipolar depression.