Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

Saus, Ester; Brunet, Anna; Armengol, Lluı́s; Alonso, Pino; Crespo, José Manuel; Fernández‐Aranda, Fernando; Guitart, Míriam; Martín‐Santos, Rocío; Menchón, José M.; Navinés, Ricard; Soria, Virginia; Torrens, Marta; Urretavizcaya, Mikel; Vallès, Vicenç; Gratacòs, Mónica; Estivill, Xavier

doi:10.1016/j.jpsychires.2010.03.007

Cited by 64 publications

(42 citation statements)

References 70 publications

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“…In a study by Saus et al (2010), at least 14 genes with CNVs have been correlated with the psychiatric disorders. This has opened a new dimension of studies and further explorations.…”

Section: Resultsmentioning

confidence: 99%

Molecular and genetic basis of depression

Roy

Tapadia

Joshi

et al. 2014

J Genet

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Joyousness or sadness is normal reaction to state of life. If any of these lead to certain semi-permanent changes in daily life, then it is termed as mental disorder. Depression is one of the mental disorders with a state of low mood and aversion to activities that exerts a negative effect on a person's thoughts and behaviour. Adolescent group is probably the world's largest active group of people, who are getting prone to this state of mind leading to their diminished mental and physical abilities. Depression is closely linked to stress and thus a chronic stressful life can increase the risk of depression. Depression is a complex disease having both genetic and environmental components as contributing factors. In this study an attempt has been made to put forward the understanding of the known genes and their functional relationships with depression and stress with special reference to BDNF and 5-HTTLPR. Analysis of common genetic variants associated with depression, especially in the members of a family who had a previous history, might help in identifying the individuals at risk prior to the onset of depression.

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“…In a study by Saus et al (2010), at least 14 genes with CNVs have been correlated with the psychiatric disorders. This has opened a new dimension of studies and further explorations.…”

Section: Resultsmentioning

confidence: 99%

Molecular and genetic basis of depression

Roy

Tapadia

Joshi

et al. 2014

J Genet

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“…Considering that dopaminergic dysfunction in the prefrontal cortex is involved in the pathophysiology of schizophrenia, DA machinery genes such as COMT have been implicated in a convergent functional genomics approach (integration of GWAS data with other gene expression studies), copy number variant analysis and systematic meta-analysis (Allen et al, 2008;Ayalew et al, 2012;Saus et al, 2010). The interaction between functional Val158Met polymorphism, a hypomorphic variant (reduced DA degradation) on the COMT gene and the DRD1 gene was found to be associated with schizophrenia solely in males (Fig.…”

Section: Schizophreniamentioning

confidence: 99%

Biological factors underlying sex differences in neurological disorders

Loke

Harley

Lee

2015

The International Journal of Biochemistry & Cell Biology

129

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“…Interestingly, GRM7 has been noted to be associated in other GWASs, including for the neuroticism-anxiery scale of the Zuckerman-Kuhlman Personality Questionnaire in individuals with bipolar disorder (36). Rare copy number variants occurring within GRM7 have been described in mood disorder patients (37), and a modest association to bipolar disorder (p=0.0001) was noted for a GRM7 SNP in tbe Wellcome Trust Case-Control Consortium bipolar disorder GWAS (38). mGluR7 is a highly conserved presynaptic autoreceptor expressed widely in the brain tbat inhibits neurotransmitter release and is tbought to be a sort of low-affinity brake on glutamate overstimulation.…”

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confidence: 99%

A New Lead From Genetic Studies in Depressed Siblings: Assessing Studies of Chromosome 3

Hamilton¹

2011

AJP

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Studies by Breen et al. and Pergadia et al. find evidence for genetic linkage between major depressive disorder and the same region on chromosome 3. The linked region contains the gene GRM7, which encodes a protein for the metabotropic glutamate receptor 7 (mGluR7). Both studies used affected sibling pairs, and neither was able to replicate its finding using association studies in individuals from larger population-based studies. Other family-based studies have also failed to find a signal in this region. Furthermore, there are some differences in how the phenotype was classified, with Breen et al. finding evidence only in the most severely affected patients. Nonetheless, the finding is not without other substantive support. A meta-analysis of 3,957 case subjects with major depressive disorder and 3,428 control subjects from the Sequenced Treatment Alternatives to Relieve Depression (STAR*D), Genetics of Recurrent Early-onset Depression (GenRED), and the Genetic Association Information Network-MDD (GAIN-MDD) data sets demonstrated a region of association for major depressive disorder within GRM7. Thus, the significance of this finding remains uncertain, although it points to a gene that might hold significant promise for further developments in studying the pathophysiology and treatment of major depressive disorder.

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Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

Cited by 64 publications

References 70 publications

Molecular and genetic basis of depression

Molecular and genetic basis of depression

Biological factors underlying sex differences in neurological disorders

A New Lead From Genetic Studies in Depressed Siblings: Assessing Studies of Chromosome 3

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