Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects

Carmel, Miri; Zarchi, Omer; Michaelovsky, Elena; Frisch, Amos; Patya, Miriam; Green, Tamar; Gothelf, Doron; Weizman, Abraham

doi:10.1016/j.jpsychires.2014.04.019

Cited by 27 publications

(24 citation statements)

References 52 publications

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“…Only one previous study has examined the effect of rs372055, but in children and adolescents with 22q11DS, reporting a trend effect for this SNP on severity of psychotic symptoms (Gothelf et al 2005). Our results are in line with a recent study investigating a different PRODH SNP (Arg158Trp rs4819756) (Carmel et al 2014). They were also not able to find an association between PRODH and FSIQ scores.…”

Section: No Association Between Prodh Rs372055 and Fsiq Or Startle Pasupporting

confidence: 91%

“…In 22q11DS, the Val 158 Met polymorphism might have a critical effect, because there is only one copy of the COMT gene (Boot et al 2011b). However, studies investigating the relationship between the COMT Val 158 Met genotype and prevalence of psychiatric disorders or cognitive functioning in 22q11DS, have yielded conflicting results (Bearden et al 2004;Baker et al 2005;Gothelf et al 2005;Glaser et al 2006a;Boot et al 2011a;Carmel et al 2014).…”

mentioning

confidence: 99%

“…Few studies on the effect of PRODH polymorphisms in 22q11DS have been conducted until now (Gothelf et al 2005;Raux et al 2007;Zarchi et al 2013;Carmel et al 2014). In the present study, we focused on the PRODH rs450046 and rs372055 polymorphisms.…”

mentioning

confidence: 99%

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PRODH rs450046 and proline x COMT Val158Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome

et al. 2015

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Section: No Association Between Prodh Rs372055 and Fsiq Or Startle Pasupporting

confidence: 91%

mentioning

confidence: 99%

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PRODH rs450046 and proline x COMT Val158Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome

et al. 2015

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“…Additionally, unmasking of other sequence variants throughout the genome and/or in the non-deleted allele that may affect the activities of the gene products has also been hypothesized to contribute to the variability of features for 22q11.2 deletions [Brzustowicz and Bassett, 2012;Zarchi et al, 2013;Carmel et al, 2014;Gothelf et al, 2014;Radoeva et al, 2014]. Other studies have suggested a possible gender effect in proximal deletion subjects, owing to the interaction of estrogen with COMT , but additional studies are needed to clarify whether there is indeed a relationship in DGS patients [Coman et al, 2010;Yu et al, 2012].…”

Section: Variability Of Phenotypementioning

confidence: 99%

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Burnside

2015

Cytogenet Genome Res

1,441

149

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Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in either deletion or duplication of various intervals in the region. The deletion of the DiGeorge/velocardiofacial syndrome interval LCR22A-D is the most common recurrent microdeletion in humans, with an estimated incidence of ∼1:4,000 births. Deletion of other intervals in 22q11.21 have also been described, but the literature is often confusing, as the terms ‘proximal', ‘nested', ‘distal', and ‘atypical' have all been used to describe various of the other intervals. Individuals with deletions tend to have features with widely variable expressivity, even among families. This review concisely delineates each interval and classifies the reported literature accordingly.

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“…Moreover, SNPs in genes important for neurodevelopment have been correlated with neuroimaging variances [26][27][28][29][30][31][32] and cognitive impairment 24,25,33 . Specific genes had effects in both healthy control and schizophrenia subjects; other had effects only in schizophrenia individuals or the effects on schizophrenia and control were contrary.…”

Section: Neurodevelopmentmentioning

confidence: 99%

Schizophrenia: neuroinflammation, neurodegeneration or neurodevelopment? A genetic overview

Polho¹,

Paula

2017

Rev. Med. (São Paulo)

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Schizophrenia is a devastating mental illness and its etiology is still largely unknown. Several gene mapping studies suggest that schizophrenia is a complex disorder, with a cumulative impact of variable genetic effects coupled with environmental factors. There is evidence that schizophrenia could be a neurodegenerative, neuroinflammatory or neurodevelopmental disorder. Neuropsychological data indicate neurocognitive functions are relatively stable over time after illness onset, whereas morphological data indicate a degenerative process; potential roles of neuroinflammation in the etiology of psychiatric diseases including schizophrenia have also been suggested. Recent research indicates genetic overlap between schizophrenia and syndromes in which psychopathology manifests in childhood and that are often grouped together as 'neurodevelopmental disorders'. These findings challenge the etiological basis of current diagnostic categories and, together with evidence for frequent comorbidity, suggest that we should view the functional psychoses as members of a group that result in part from a combination of genetic and environmental effects on brain development and that are associated with specific and general impairments of cognitive function. The objective was to perform a systematic literature review of articles on genetics of schizophrenia relating to neurodegeneration, neuroinflammation and neurodevelopment. After proper filter, we included 40 studies and reviewed each finding and its relevance to the hypotheses. We can conclude that the evidence points to schizophrenia as a neurodevelopmental disease with the direct presence of factors related to neuroinflammation and neurodegeneration.Keywords: Schizophrenia/genetics; Neurodevelopmental disorders/ genetics; Pantothenate kinase-associated neurodegeneration/ genetics; Neurogenetic inflammation/genetics; Genetics.RESUMO: Esquizofrenia é uma doença mental debilitante e sua etiologia é, em sua maior parte, desconhecida. Alguns estudos de mapeamento genético sugerem que esquizofrenia é uma doença complexa, com impacto acumulativo de fatores genéticos variáveis associados a fatores ambientais. Há evidência de que a esquizofrenia poderia ser uma doença neurodegenerativa, neuroinflamatória ou do neurodesenvolvimento. Dados neuropsicológicos indicam que funções cognitivas são relativamente estáveis no decorrer do tempo após o início da doença, enquanto dados morfológicos indicam processos degenerativos; papéis importantes da neuroinflamação na etiologia de doenças psiquiátricas, incluindo esquizofrenia, também foram sugeridos. Pesquisas recentes indicam sobreposição entre esquizofrenia e síndromes cuja fisiopatologia se manifesta na infância e são em geral agrupadas como "doenças do neurodesenvolvimento". Estes achados desafiam a base etiológica das categorias atuais de diagnóstico e, juntamente com a evidência de comorbidade frequente, sugerem que devemos ver as psicoses como membros do grupo que resulta em parte da combinação de efeitos genéticos e ambientai...

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Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects

Cited by 27 publications

References 52 publications

PRODH rs450046 and proline x COMT Val158Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome

PRODH rs450046 and proline x COMT Val158Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features

Schizophrenia: neuroinflammation, neurodegeneration or neurodevelopment? A genetic overview

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