1. P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder
- Author
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Daria Salyakina, Manfred Uhr, Elisabeth B. Binder, Marcus Ising, Bertram Müller-Myhsok, Roselind Lieb, Florian Holsboer, Nicholas Barden, Marcelo Paez-Pereda, Susanne Lucae, Michel Labbé, Mario Harvey, Inge Sillaber, Bernard Gagné, and Tanja Brückl
- 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 - 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.
- Published
- 2006