Study Report
Reference
| Citation | Lucae, 2006 PubMed |
| Full Info | Lucae, S., Salyakina, D., Barden, N., Harvey, M., Gagne, B., Labbe, M., Binder, E.B., Uhr, M., Paez-Pereda, M., Sillaber, I. et al. (2006) P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder. Hum Mol Genet, 15, 2438-2445
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Study
| Hypothesis or Background |
The P2RX7 gene is located within a region on chromosome 12q24.31 that has been identified as a susceptibility locus for affective disorders by linkage and association studies. P2RX7 is a purinergic ATP-binding calcium channel expressed in neurons as well as in microglial cells in various brain regions.
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| Sample Information | 1000 German Caucasian patients suffering from recurrent major depressive disorder (MDD), diagnosed healthy Caucasian controls from the same population (n=1029) |
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| Method Detail | We investigated 29 single nucleotide polymorphisms (SNPs) within the P2RX7 gene and adjacent genes in a sample of 1000 German Caucasian patients suffering from recurrent major depressive disorder (MDD). These were contrasted with diagnosed healthy Caucasian controls from the same population (n=1029). |
| Method Keywords | genotyping |
| Result | A non-synonymous coding SNP in the P2RX7 gene (rs2230912), previously found to be associated with bipolar disorder, was significantly associated (P=0.0019) with MDD. |
| Conclusions | This polymorphism results in an amino acid exchange in the C-terminal cytosolic domain of the P2RX7 channel protein, suggesting that the observed P2RX7 polymorphism might play a causal role in the development of depression. |
Relationships reported by
Lucae, 2006
| Component A Approved Name (Name in Paper) |
Component A Type |
Component B Approved Name (Name in Paper) |
Component B Type |
Statistical Result |
Relationship Description |
Result Category (Positive/Negative)) |
|
MDD
|
syndrome |
P2RX7 (P2RX7) |
gene |
P-value=0.0019 |
A non-synonymous coding SNP in the P2RX7 gene (rs2230912) was significantly associated (P=0.0019) with MDD. |
Positive
|
|
MDD
|
syndrome |
rs2230912 (rs2230912) |
SNP |
P-value=0.0019 |
A non-synonymous coding SNP in the P2RX7 gene (rs2230912) was significantly associated (P=0.0019) with MDD. |
Positive
|
