Association study of CSF2RB with schizophrenia in Irish family and case – control samples

Chen, Q; Wang, X; O'Neill, F. Anthony; Walsh, Dermot; Fanous, Ayman H.; Kendler, Kenneth S.; Chen, X

doi:10.1038/sj.mp.4002051

Cited by 31 publications

(29 citation statements)

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“…al. found rs1859427 and rs6861170 to be significantly associated with schizophrenia within their case-control population, and significance was maintained even after correction for multiple testing (p=0.01967 for both markers) (Chen et al, 2008). The MAF for both rs1859427 and rs6861170 FBXL21 markers were very similar in the schizophrenia group for both the present study (MAF=0.32 for both markers) and in the Chen et.…”

Section: Discussionsupporting

confidence: 64%

“…The p53 pathway plays an essential role in the modulation of neurodevelopmental processes (including cerebral vascularization and neurogenesis) and/or to neurodevelopmental disorders such as schizophrenia. Due to their previous association in different reports and populations (Chen et al, 2008;Middleton et al, 2002), we analyzed a set of potential Single Nucleotide Polymorphisms (SNPs) in the UBE2D1 (coding for E2D1 protein), PIAS2…”

Section: Introductionmentioning

confidence: 99%

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Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?

Andrews

Fernandez

2014

Genet. Res.

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Despite extensive research during the last few decades, the etiology of schizophrenia remains unclear. Evidence of both genetic and environmental influences in the developmental profile of schizophrenia has grown, and due to the complexity of this disorder, a polygenic aspect has been associated with this neuropsychiatric pathology. Unfortunately, no diagnostic strategies based on biological measurement or genetic testing is currently available for schizophrenia. Gene-expression profiling and recent protein studies have shown a decrease in the expression of ubiquitin pathway proteins in the prefrontal cortex of schizophrenia patients. We have examined single nucleotide polymorphisms (or SNPs) within three genes from the ubiquitin protein system: the ubiquitin conjugating enzyme E2D1 (UBE2D1) gene, the E3 SUMOprotein ligase protein inhibitor of activated STAT 2 (PIAS2) gene, and the E3 ubiquitin ligase F-box and leucine-rich repeat protein 21 (FBXL21) gene, in a Caucasian case-control population for schizophrenia. After Bonferroni correction for multiple testing was applied, no significant associations were reported for any of the tested SNPs. Additional genetic analyses will be necessary to fully explore the role of these three genes in schizophrenia. Regarding the rising interest in ubiquitin-related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways in schizophrenia seems topical and timely. SummaryDespite extensive research during the last decades, the etiology of schizophrenia remains unclear. Evidence of both genetic and environmental influences in the developmental profile of schizophrenia has grown, and due to the complexity of this disorder, a polygenic aspect has been associated with this neuropsychiatric pathology. Unfortunately, no diagnostic strategies based on biological measurement or genetic testing is currently available for schizophrenia. Gene expression profiling and recent protein studies have shown a decrease in the expression of ubiquitin pathway proteins in the prefrontal cortex of schizophrenia patients. We have examined Single Nucleotide Polymorphisms (or SNPs) within three genes from the ubiquitin protein system: the ubiquitin conjugating enzyme E2D1 (UBE2D1) gene, the E3 SUMO-protein ligase protein inhibitor of activated STAT 2 (PIAS2) gene, and the E3 ubiquitin ligase F-box and leucine-rich repeat protein 21 (FBXL21) gene, in a Caucasian case-control population for schizophrenia. After Bonferroni correction for multiple testing was applied, no significant associations were reported for any of the tested SNPs. Additional genetic analyses will be necessary to fully explore the role of these three genes in schizophrenia. Regarding the rising interest of ubiquitin related proteins as a therapeutic target in other pathologies such as cancer, further research into the role of ubiquitin pathways in schizophrenia seem topical and timely.

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Section: Discussionsupporting

confidence: 64%

Section: Introductionmentioning

confidence: 99%

Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?

Andrews

Fernandez

2014

Genet. Res.

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“…One of these directions is associated with the activity of the immune system and its effects on neural plasticity, glial activation and eventually the associated functional disorders of CNS. In this regard several studies for genetic associations with schizophrenia a linkage is found with components of the IL-3 signaling pathway -the gene coding for IL-3 (3) and the genes coding for the two subunits of the IL-3 receptor (4,11) In 2008 Akemi Hoshino è Hodaka Fujii(10) identified the gene CCDC86 to be directly induced by IL-3 in a IL-3 dependent pro-B cell line (14 ) and named it Ñyclon (cytokine induced protein with coiled-coil domain) (10). In a consequent study the gene was identified to be important for the phenomenon of activation induced cell death (AICD) in T lymphocytes (14).…”

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confidence: 99%

Aspects of Cyclon and BDNF Gene Expression in Schizophrenia Patients

Chervenkov¹

2012

JofIMAB

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ABSTRACT:The pathogenesis of the schizophrenic illness is still not fully elucidated. Many studies have been conducted revealing different aspects but may be the studies of greatest significance are studying the genetic aspects of expression of trophic factors and enzymes associated with nervous system development and plasticity. In this relation we aimed at measuring the Cyclon and BDNF genes expression in blood of patients suffering from schizophrenia and to test for correlation between them. Our result did not reveal correlation in spite of their connection with the disease.

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“…CSF2RB which regulates both IL3 and CSF2, was associated with schizophrenia. 35,40 CSF2 has also been associated with numerous autoimmune disorders and inflammation. [41][42] The IRF1 gene activates other interferons and is associated with inflammatory conditions 43 and with fibrinogen.…”

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confidence: 99%

“…33 The ACSL6 gene has been linked to schizophrenia 32 and an animal model of depression. 34 Interleukin 3 (IL3) is a cytokine with neurotrophic activity; it has been associated with schizophrenia, 35 but also several inflammatory conditions, including asthma and…”

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confidence: 99%

Genomewide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide

Coon

Darlington

DiBlasi

et al. 2017

Preprint

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Suicide is the 10th leading cause of death in the US. While environment has undeniable impact, evidence suggests that genetic factors play a major role in completed suicide. We have >4,500 DNA samples from completed suicides through a collaboration with the Utah Medical Examiner. We have linked the records from these cases to the Utah Population Database which includes multi-generation genealogies, demographic data, and medical information on over 8 million individuals. This linking has resulted in extended families (7-9 generations) with significant familial risk of completed suicide. Familial aggregation across distant relatives minimizes effects of shared environment, provides more genetically homogeneous risk groups, and magnifies genetic risks through familial repetition. We analyzed DNA from 215 suicide cases in 43 of our largest high-risk families and identified 16 regions with genome-wide significance in 10 families. Of the 163 genes in these regions, 25% were associated with psychiatric risk. We also found 13 regions with genome-wide suggestive evidence where the region overlaps in >1 family (p-values from 4.63E-09 to <1E-16). Of the 101 genes in these overlapping regions, seven have been previously associated with suicide risk (RGS18, BRINP3, RHEB, CDK5, CTNNA3, STAT1, and HTR2A); only one gene with specific suicide risk would have been expected by chance. Our most significant region on chromosome 5q23.3 was shared by 21 cases across three families. This region contains several genes associated with both psychiatric conditions and inflammation: HINT1, RAPGEF6, ACSL6, IL3, SLC22A4, CSF2, and IRF1. Our study provides 249 genes in the significant regions in our study represent important new candidate genes for suicide. The genome-wide significant family-specific regions may reveal more rare risk variants, while risk variants in regions that overlap across families may be more common.. CC-BY-ND 4.0 International license It is made available under a (which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.The copyright holder for this preprint . http://dx.doi.org/10.1101/195644 doi: bioRxiv preprint first posted online Sep. 28, 2017; 3 Author SummarySuicide is the 10th leading cause of death in the US. While environment has undeniable impact, evidence suggests that genetic factors play a major role in completed suicide. We have used DNA from suicide cases related to each other in very large extended high-risk families (7-9 generations) to discover regions of the genome likely to contain genetic changes leading to increased suicide risk. Studying these distantly related cases minimizes effects of shared environment and allows us to detect genetic risks more easily through their familial repetition. The genomic regions discovered in this study of our 43 largest high-risk families contained seven genes with corroborating evidence of association with suicide from previous studies, in addition to many genes with known psychiatric assoc...

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Association study of CSF2RB with schizophrenia in Irish family and case – control samples

Cited by 31 publications

References 64 publications

Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?

Investigation of genetic variants in ubiquitin enzyme genes involved in the modulation of neurodevelopmental processes: a role in schizophrenia susceptibility?

Aspects of Cyclon and BDNF Gene Expression in Schizophrenia Patients

Genomewide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide

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