Evaluation of the role of MAPK1 and CREB1 polymorphisms on treatment resistance, response and remission in mood disorder patients

Calati, Raffaella; Crisafulli, Concetta; Balestri, Martina; Serretti, Alessandro; Spina, Edoardo; Calabrò, Marco; Sidoti, Antonina; Albani, Diego; Massat, Isabelle; Höfer, Peter; Amital, Daniela; Juven‐Wetzler, Alzbeta; Kasper, Siegfried; Zohar, Joseph; Souery, Daniel; Montgomery, Stuart; Mendlewicz, Julien

doi:10.1016/j.pnpbp.2013.03.005

Cited by 43 publications

(34 citation statements)

References 84 publications

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“…Genetic polymorphisms CREB1 polymorphisms have been associated with mood disorders, mainly exhibiting a significant gender effect (Zubenko et al 2003a(Zubenko et al , 2003bPerlis et al 2007;Dong et al 2009;Utge et al 2010;Juhasz et al 2011;Lazary et al 2011), nevertheless not unequivocally (Burcescu et al 2005;Hettema et al 2009). Findings for CREB1 and antidepressant response are also inconsistent (Murphy et al 2004;Wilkie et al 2007;Serretti et al 2011;Calati et al 2013) and negative findings have also been reported (Dong et al 2009;Crisafulli et al 2012;Matsumoto et al 2014).…”

Section: Cyclic Amp Response Element Binding Proteinmentioning

confidence: 99%

Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response

Fabbri

Hosák

Mößner

et al. 2016

The World Journal of Biological Psychiatry

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Major depressive disorder (MDD) is a heritable disease with a heavy personal and socio-economic burden. Antidepressants of different classes are prescribed to treat MDD, but reliable and reproducible markers of efficacy are not available for clinical use. Further complicating treatment, the diagnosis of MDD is not guided by objective criteria, resulting in the risk of under-or overtreatment. A number of markers of MDD and antidepressant response have been investigated at the genetic, epigenetic, gene expression and protein levels. Polymorphisms in genes involved in anti-depressant metabolism (cytochrome P450 isoenzymes), antidepressant transport (ABCB1), glucocorticoid signalling (FKBP5) and serotonin neurotransmission (SLC6A4 and HTR2A) were among those included in the first pharmacogenetic assays that have been tested for clinical applicability. The results of these investigations were encouraging when examining patient-outcome improvement. Furthermore, a nine-serum biomarker panel (including BDNF, cortisol and soluble TNF-a receptor type II) showed good sensitivity and specificity in differentiating between MDD and healthy controls. These first diagnostic and response-predictive tests for MDD provided a source of optimism for future clinical applications. However, such findings should be considered very carefully because their benefit/cost ratio and clinical indications were not clearly demonstrated. Future tests may include combinations of different types of biomarkers and be specific for MDD subtypes or pathological dimensions.

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Section: Cyclic Amp Response Element Binding Proteinmentioning

confidence: 99%

Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response

Fabbri

Hosák

Mößner

et al. 2016

The World Journal of Biological Psychiatry

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“…Its encoded protein is implicated in a variety of biological processes, and it has been implicated in psychiatric disorders such as major depressive disorder and schizophrenia [17,18] as well as BPD [18]. MAPK1 has a critical role in synaptic and structural plasticity.…”

Section: Introductionmentioning

confidence: 99%

Genes Involved in Neurodevelopment, Neuroplasticity, and Bipolar Disorder: CACNA1C, CHRNA1, and MAPK1

Calabrò¹,

Mandelli²,

Crisafulli³

et al. 2016

Neuropsychobiology

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Background: Bipolar disorder (BPD) is a common and severe mental disorder. The involvement of genetic factors in the pathophysiology of BPD is well known. In the present study, we tested the association of several single-nucleotide polymorphisms (SNPs) within 3 strong candidate genes (CACNA1C, CHRNA7, and MAPK1) with BPD. These genes are involved in monoamine-related pathways, as well as in dendrite development, neuronal survival, synaptic plasticity, and memory/learning. Methods: One hundred and thirty-two subjects diagnosed with BPD and 326 healthy controls of Korean ancestry were genotyped for 40 SNPs within CACNA1C, CHRNA17, and MAPK1. Distribution of alleles and block of haplotypes within each gene were compared in cases and controls. Interactions between variants in different loci were also tested. Results: Significant differences in the distribution of alleles between the cases and controls were detected for rs1016388 within CACNA1C, rs1514250, rs2337980, rs6494223, rs3826029 and rs4779565 within CHRNA7, and rs8136867 within MAPK1. Haplotype analyses also confirmed an involvement of variations within these genes in BPD. Finally, exploratory epistatic analyses demonstrated potential interactive effects, especially regarding variations in CACNA1C and CHRNA7. Limitations: Limited sample size and risk of false-positive findings. Discussion: Our data suggest a possible role of these 3 genes in BPD. Alterations of 1 or more common brain pathways (e.g., neurodevelopment and neuroplasticity, calcium signaling) may explain the obtained results.

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“…Based on previous studies (13)(14)(15), three SNPs from the CREB1 gene were selected, including rs22541376, rs16839883 and rs2551638. SNP sequences were obtained from the Single Nucleotide Polymorphism Database (http://www.ncbi.nlm.nih.…”

Section: Methodsmentioning

confidence: 99%

“…Serretti et al found that CREB1 polymorphisms are associated with drug tolerance through the detection of five SNPs in CREB1 (rs2709376, rs2253206, rs7569963, rs7594560 and rs4675690) (26). In addition, previous studies identified reduced expression levels of CREB and phosphorylated-CREB (p-CREB) in the encephalic region of a cadaver specimen, including the temporal lobe, frontal orbital plane and the hippocampus (27)(28)(29). The expression of CREB has been observed to significantly decrease compared with the control subjects (30,31) and CREB is upregulated by chronic antidepressant treatment, with increased CREB levels in rodent models resulting in antidepressant-like behaviors (32)(33)(34).…”

Section: N (%) ------------------------------------------------------mentioning

confidence: 99%

Association study of three single-nucleotide polymorphisms in the cyclic adenosine monophosphate response element binding 1 gene and major depressive disorder

Wei

Liu

et al. 2015

Experimental and Therapeutic Medicine

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Abstract.Major depressive disorder is a common chronic emotional disorder, and cyclic adenosine monophosphate response element binding protein 1 (CREB1) is hypothesized to play a role in its pathogenesis. The aim of the present study was to investigate the associations between major depressive disorder and relevant single nucleotide polymorphisms (SNPs) in the CREB1 gene. A total of 1,038 subjects of Han Chinese descent were recruited, including 456 patients with major depressive disorder (case group) and 582 healthy volunteers (control group). The frequency distributions of the genotypes and alleles were estimated in the case and control groups, and analyzed for any correlation with major depressive disorder. Three relevant SNP sites in CREB1 were analyzed using quantitative polymerase chain reaction, and statistical analyses were performed to estimate their use as risk factors for major depressive disorder. The analyses revealed that rs2254137 and rs16839883 in CREB1 showed polymorphisms in the sample population, and the genotype and allele frequencies of rs16839883 differed significantly when comparing the patients and healthy controls (P<0.05). No statistically significant differences were detected in the two SNP sites between the male and female patients (P>0.05). Furthermore, no statistically significant differences were detected in rs2254137 genotype and allele distribution when comparing the male and female patients with their corresponding control groups (P>0.05). However, statistically significant differences were observed in the genotype and allele frequencies of rs16839883 when the male and female patients were compared with their respective controls (P<0.05). Therefore, the results demonstrated that there is a close correlation between the rs16839883 polymorphism in CREB1 and major depressive disorder, which suggests that this SNP site should be further studied as a potential biomarker for major depressive disorder.

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Evaluation of the role of MAPK1 and CREB1 polymorphisms on treatment resistance, response and remission in mood disorder patients

Cited by 43 publications

References 84 publications

Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response

Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response

Genes Involved in Neurodevelopment, Neuroplasticity, and Bipolar Disorder: CACNA1C, CHRNA1, and MAPK1

Association study of three single-nucleotide polymorphisms in the cyclic adenosine monophosphate response element binding 1 gene and major depressive disorder

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