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P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder
- Source :
- Human Molecular Genetics. 15:2438-2445
- Publication Year :
- 2006
- Publisher :
- Oxford University Press (OUP), 2006.
-
Abstract
- 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. 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). 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. 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.
- Subjects :
- Adult
Male
medicine.medical_specialty
Genotype
Genetic Linkage
Population
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Gene Frequency
Recurrence
Internal medicine
Genetics
medicine
Humans
Bipolar disorder
Age of Onset
education
Molecular Biology
Genetics (clinical)
Genetic association
Depressive Disorder, Major
education.field_of_study
Receptors, Purinergic P2
Purinergic receptor
Haplotype
General Medicine
P2RX7
Middle Aged
medicine.disease
Logistic Models
Phenotype
Endocrinology
Haplotypes
Case-Control Studies
Major depressive disorder
Female
Receptors, Purinergic P2X7
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....c7f60a8f7103fa8ac6ab20f7688c9893