Cited by 262Adenosine and Purinergic SignalingGenetic Associations and EpidemiologyNeurotransmitter Receptor Influence on Behavior

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P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder

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Lucae, Susanne, Salyakina, Daria, Barden, Nicholas, Harvey, Mario, Gagné, Bernard, Labbé, Michel, Binder, Elisabeth B., Uhr, Manfred, Paez-Pereda, Marcelo, Sillaber, Inge, Ising, Marcus, Brückl, Tanja, Lieb, Roselind, Holsboer, Florian, Müller-Myhsok, Bertram·2006·Human Molecular Genetics

DOI 10.1093/hmg/ddl166

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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.

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Authors: Lucae, S., Salyakina, D., Barden, N., Harvey, M., Gagné, B., Labbé, M., Binder, E. B., Uhr, M., Paez-Pereda, M., Sillaber, I., Ising, M., Brückl, T., Lieb, R., Holsboer, F., & Müller-Myhsok, B.
Affiliations: Max Planck Institute of Psychiatry (DE)
Centre hospitalier de l'Université Laval (CA)
Corresponding author: Müller-Myhsok, Bertram
ORCID: Lucae, Susanne
Salyakina, Daria
Labbé, Michel
Binder, Elisabeth B.
Ising, Marcus
Brückl, Tanja
Lieb, Roselind
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2006-07-05
Volume: 15
Issue: 16
Pages: 2438-2445
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddl166
OpenAlex: W2172099127
Cited by: 261
References: 49
Citations by year: 2026: 8 · 2025: 5 · 2024: 4 · 2023: 10 · 2022: 10 · 2021: 12 · 2020: 8 · 2019: 6 · 2018: 15 · 2017: 9 · 2016: 10 · 2015: 16 · 2014: 17 · 2013: 18 · 2012: 23
FWCI: 9.69
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc
Locations: Human Molecular Genetics (publishedVersion, cc-by-nc)
PubMed (publishedVersion)
Max Planck Institute for Plasma Physics (submittedVersion)
Funders: Bundesministerium für Bildung und Forschung (01GS0481)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Physiology › Adenosine and Purinergic Signaling
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Keywords: P2X7 receptor, major depressive disorder, single nucleotide polymorphisms, genetic susceptibility, microglia, bipolar disorder, non-synonymous variants
MeSH terms: Adult, Major Depressive Disorder, Female, Gene Frequency, Genotype, Haplotypes, Humans, Genetic Linkage, Male, Middle Aged, Phenotype, Recurrence, Linkage Disequilibrium, Logistic Models, Case-Control Studies, Age of Onset, Receptors, Purinergic P2, Polymorphism, Single Nucleotide, Receptors, Purinergic P2X7

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P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder

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