國家衛生研究院 NHRI:Item 3990099045/6186

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Title:	Some predicting ways for people genetically vulnerable to schizophrenia: a family-based study
Authors:	Cheng, C;Loh, EW;Chan, CH;Lan, TH
Contributors:	Division of Mental Health and Addiction Medicine
Abstract:	Background and Purpose: Neurodevelopmental hypothesis suggests that schizophrenia may be a disorder with origins in early disturbance of neurodevelopment. Based on this hypothesis, defective organ systems and/or physiological functions are considered to develop in patients with schizophrenia. On the other side, genetic studies have suggested that a spectrum of allelic risk contributes to schizophrenia. There has been clear evidence for the involvement of several genomic copy number variants in schizophrenia. In this study, we tried to find out the biological abnormalities including morphological discrepancy and copy number variants in those people who are genetically vulnerable and judged to be at higher risk of developing schizophrenia. Methods: This is a prospective family-based study. We recruited Taiwanese families with at least one first-degree relative or two second- or third-degree relatives who meet a diagnosis of schizophrenia associated disorders (including schizophrenia, schizoaffective disorder, schizophreniform disorder, schizoid personality disorder, schizotypal personality disorder) by the DSM-IV-TR by the single ascertainment assumption. A genomewide screen of participants’ DNA was done using array comparative genomic hybridization (CGH) method to detect the copy number variants (CNV). Morphological features were assessed by a checklist developed in our previous study[1], thirteen morphological features, including 10 items adapted from the revised version of Waldrop Scale and 3 items we clinically observe, were applied to the participants. We analyzed 23 participants including 13 patients with schizophrenia and 10 biological relatives. The differences between the two groups of patients with schizophrenia and their biological relatives were assessed. Results: Items attributed to morphological discrimination in patients with schizophrenia were determined by logistic regression analysis with stepwise backward model. Four out of the 13 items, including single transverse palmar crease, epicanthus, wider inner canthal distance (>4 cm), and wider outer canthal distance (>12 cm) have significant difference and were regarded as risk factors for the family member group. Receiver operating characteristic (ROC) analysis was performed to assess the copy number variants between the two groups. The item >50 kb gain of a chromosome has more obvious indicative ability; >50 kb gain for more than 10 chromosomes was regarded as a risk factor. Putting those 5 risk factors together (4 morphological factors and 1 genetic factor) as a predicting way, 3 family members could be identified as having an extra-higher risk to develop schizophrenia, who had not less than 2 risk factors. Conclusions and Discussion: In our preliminary study, to integrate the results from the morphological discrepancy and copy number variants may possess abilities to predict the onset of schizophrenia among those genetically vulnerable family members, and therefore some intervention can be done to either prevent or slow the progress. If our current findings can be in combination with other biological examination such as neuroimaging and other neuropsychological tests, which will be perform for those participants in our family study in the future, it may be possible to develop a biological predicting system for the onset of schizophrenia, especially for those who are genetically vulnerable.
Date:	2011-09
Relation:	European Neuropsychopharmacology. 2011 Sep;21(Suppl. 3):S244-S245.
Link to:	http://dx.doi.org/10.1016/S0924-977X(11)70377-7
JIF/Ranking 2023:	http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0924-977X&DestApp=IC2JCR
Cited Times(WOS):	https://www.webofscience.com/wos/woscc/full-record/WOS:000297383600146
Appears in Collections:	[El-Wui Loh(2004-2012)] Conference Papers/Meeting Abstract

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