Genetic association between a ‘standing’ variant of NOD2 and bipolar disorder |
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| Authors: | José Oliveira,Nora Hamdani,Bruno Etain,Meriem Bennabi,Wahid Boukouaci,Kahina Amokrane,Catherine Fortier,Franç ois Marzais,Djaouida Bengoufa,Frank Bellivier,Chantal Henry,Jean-Pierre Kahn,Dominique Charron,Rajagopal Krishnamoorthy,Marion Leboyer,Ryad Tamouza |
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| Affiliation: | 1. INSERM, U1160, Hôpital Saint Louis, Paris F75010, France;2. INSERM, U955, Psychiatrie Génétique, Créteil F94000, France;3. Laboratoire Jean Dausset, LabEx Transplantex, Hôpital Saint Louis, Paris F75010, France;4. Université Paris-Est, Faculté de Médecine, Créteil F94000, France;5. AP-HP, DHU PePSY, Pôle de Psychiatrie, Hôpitaux Universitaires Henri Mondor, Créteil F94000, France;6. Fondation FondaMental, Créteil F94000, France;g Service de Psychiatrie et Psychologie Clinique, CHU de Nancy, Hôpitaux de Brabois, Vandoeuvre Les Nancy F54500, France;h Université Paris Diderot, Sorbonne Paris-Cité, Paris F75013, France |
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| Abstract: | Bipolar disorders (BD) are chronic, multisystem and multifactorial disorders with significant lifetime morbidity, mortality and socio-economic burden. Understanding the underlying genetic and disease triggering environmental factors should improve diagnosis, prognosis, prevention and therapeutic management of the disease. Since intestinal innate dysimmunity seems to play a significant role in the etiopathogeny of BD, we explored in a sample of French Caucasian BD patients, the genetic polymorphisms of NOD2 (nucleotide-binding oligomerization domain containing 2) gene, a key player in such immunity. We found a Caucasian-specific ‘standing’ variation to be associated with BD. The significance of this finding is discussed in the context of Crohn's disease as well as the complex function of NOD2 in innate immunity. |
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| Keywords: | BD, bipolar disorder NOD2, nucleotide-binding oligomerization domain containing 2 CARD15, caspase recruitment domain-containing protein 15 Crohn's disease, CD NF-κB, nuclear factor-kappa B PAMPs, pathogen-associated molecular patterns DAMPs, damage-associated molecular patterns PRR, pattern recognition receptor CARD, caspase recruitment domain LRR, leucine-rich repeat NBD, nucleotide-binding oligomerization domain MDP, muramyl dipeptide TNF-αtumor, necrosis factor alpha IL, interleukin IBD, inflammatory bowel disease GvHD, graft-versus-host disease CNS, central nervous system SNP, single-nucleotide polymorphism LPS, lipopolysaccharide PGN, peptidoglycan |
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