<i>ARVCF</i>Genetic Influences on Neurocognitive and Neuroanatomical Intermediate Phenotypes in Chinese Patients With Schizophrenia

Sim, Kang; Chan, Wai-Yen; Woon, Puay-San; Low, Hui-Qi; Lim, Linda Lay Hoon; Yang, Guo-Liang; Lee, Jimmy; Chong, Siow Ann; Sitoh, Yih Yian; Chan, Yiong Huak; Li, Jianjun; Tan, Ene Choo; Hj, Williams; Nowinski, Wiesław L.

doi:10.4088/jcp.10m06491

Cited by 17 publications

(14 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…with schizophrenia 36,37,41,42 ; overexpression of the region in mice leads to alterations in incentive learning and working memory 43 ; common variants in ARVCF are associated with an intermediate MRI phenotype that includes altered FA in patients who have schizophrenia 44 ; and SNPs in COMT are associated with white matter changes in preterm-born adults. 45 The association between a tag SNP in ARVCF and reduced FA in white matter after preterm birth could be explained by: common variation at ARVCF influencing white matter microstructure, which has been reported in adult-onset schizophrenia 44 ; the SNP being in strong linkage disequilibrium (LD) with nongenotyped SNPs that span COMT (Supplementary Fig 1A); or a regulatory role on gene expression.…”

Section: Figurementioning

confidence: 99%

“…45 The association between a tag SNP in ARVCF and reduced FA in white matter after preterm birth could be explained by: common variation at ARVCF influencing white matter microstructure, which has been reported in adult-onset schizophrenia 44 ; the SNP being in strong linkage disequilibrium (LD) with nongenotyped SNPs that span COMT (Supplementary Fig 1A); or a regulatory role on gene expression. Two SNPs in COMT (rs1110477 and rs9332377) approached significance and were in intermediate LD with rs2518824, which could account for the reduced significance of these associations.…”

Section: Figurementioning

confidence: 99%

See 1 more Smart Citation

Common Genetic Variants and Risk of Brain Injury After Preterm Birth

et al. 2014

View full text Add to dashboard Cite

Section: Figurementioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Common Genetic Variants and Risk of Brain Injury After Preterm Birth

et al. 2014

View full text Add to dashboard Cite

“…19, 20 Interestingly, this gene has been recently shown to influence neurocognitive and neuroanatomical intermediate phenotypes in patients with SCZ. 21 However, others studies did not find positive association between ARVCF and SCZ. 22, 23, 24 …”

Section: Discussionmentioning

confidence: 96%

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients

et al. 2017

View full text Add to dashboard Cite

The velo-cardio-facial syndrome (VCFS) is caused by hemizygous deletions on chromosome 22q11.2. The VCFS phenotype is complex and characterized by frequent occurrence of neuropsychiatric symptoms with up to 25–30% of cases suffering from psychotic disorders compared with only ~1% in the general population (odds ratio≈20–25). This makes the 22q11.2 deletion one of the most prominent risk factors for schizophrenia. However, its penetrance for neuropsychiatric phenotypes is incomplete suggesting that additional risk factors are required for disease development. These additional risk factors could lie anywhere on the genome, but by reducing the normal diploid to a haploid state, the 22q11.2 deletion could result in the unmasking of otherwise recessive alleles or functional variants on the non-deleted 22q11.2 allele. To test this hypothesis, we captured and sequenced the whole 22q11.2 non-deleted region in 88 VCFS patients with (n=40) and without (n=48) psychotic disorders to identify genetic variation that could increase the risk for schizophrenia. Single nucleotide variants (SNVs), small insertions/deletions (indels) and copy number variants were called and their distributions were compared between the two diagnostic groups using variant-, gene- and region-based association tests. None of these tests resulted in statistical evidence for the existence of a genetic variation in the non-deleted allele that would increase schizophrenia risk in VCFS patients. Power analysis showed that our study was able to achieve >80% statistical power to detect association of a risk variant with an odd ratio of ⩾22. However, it is certainly under-powered to detect risk variant of smaller effect sizes. Our study did not provide evidence that genetic variants of very large effect size located on the non-deleted 22q1.2 allele in VCFS patients increase the risk for developing psychotic disorders. Variants with smaller effects may be located in the remaining 22q11.2 allele and elsewhere in the genome. Therefore, whole exome or even genome sequencing for larger sample size would appear to be the next logical steps in the search for the genetic modifiers of the 22q11.2-deletion neuropsychiatric phenotype.

show abstract

“…SEZ6L was recently linked to autism spectrum disorder (Chapman et al, 2015) and ARVCF has been associated with schizophrenia (Sim et al, 2012). Another strong candidate is the gene COMT, which has been widely studied in relation to social and emotional behaviour in humans (schizophrenia and "persistence" personality types).…”

Section: Genes For Social Behaviour In Dogs and Humansmentioning

confidence: 99%

The Genetics of How Dogs Became Our Social Allies

Jensen

Persson

Wright

et al. 2016

Curr Dir Psychol Sci

View full text Add to dashboard Cite

Dogs were domesticated from wolves about 15000 years ago and an important selection pressure (intentional or unintentional) has been their ability to communicate and cooperate with us. They show extensive human-directed sociability, which varies within as well as between breeds and which is not shared by ancestral wolves. Hence, dogs are potentially ideal models for studying the genetics of social behaviour. Here we review some recent research carried out by others and us on this subject. We present results showing that recent selection of different breed types can be used as a model system for investigating the genetic architecture of personalities. Furthermore, we review data showing that human-directed social behaviour is significantly related to a small number of genes, which have known connections to human social disorders such as autism and schizophrenia. We suggest that dogs are excellent study subjects for analyzing the evolution and genetics of social behaviour, and can serve as probes for human health and welfare.

show abstract

ARVCFGenetic Influences on Neurocognitive and Neuroanatomical Intermediate Phenotypes in Chinese Patients With Schizophrenia

Cited by 17 publications

References 0 publications

Common Genetic Variants and Risk of Brain Injury After Preterm Birth

Common Genetic Variants and Risk of Brain Injury After Preterm Birth

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients

The Genetics of How Dogs Became Our Social Allies

Contact Info

Product

Resources

About