Effect of copy number variant burden on Global Assessment of Functioning in schizophrenia.
Effect of copy number variant burden on Global Assessment of Functioning in schizophrenia.
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拷贝数变异负担对精神分裂症整体功能评估的影响
DOI：
10.1097/ypg.0000000000000135
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发表时间：
2016
影响因子：
0.9
通讯作者：
Degenhardt F
中科院分区：
文献类型：
--
作者：
Heilbronner U;Gade K;Herms S;Strohmaier J;Lang M;Nöthen MM;Rietschel M;Schulze TG;Degenhardt F
社会、职业和心理功能减退是精神分裂症的一个标志。全球功能评估（GAF）评分是对个人整体心理社会功能的衡量，评分范围从1（最低）到100（最高）。在冰岛样本中，Stefansson等人（2014）表明，携带拷贝数变异（CNV）的对照个体的GAF得分低于没有CNV的基于人群的对照。迄今为止，尚无研究调查SZ患者GAF评分与CNV负担之间的可能相关性。本初步研究的目的是确定在DSM-IV诊断为SZ的患者生命中的几个时间点上，CNV负担对GAF评分的影响（见下文）。在德国使用现有的全基因组CNV数据集招募患者（Priebe et al., 2013）。易发生假阳性CNV的染色体区域，如端粒区和着丝粒区；参见Levinson et al.（2011）被排除。该分析仅限于与至少一个RefSeq基因重叠的“高质量”CNVs（即跨越≥30个snp且置信度/对数贝叶斯因子≥30）。
Reduced social, occupational, and psychological functioning is a hallmark of schizophrenia (SZ). The Global Assessment of Functioning (GAF) score is a measure of the overall psychosocial functioning of an individual on a scale from 1 (lowest) to 100 (highest). In an Icelandic sample, Stefansson et al.(2014) showed that GAF scores were lower in control individuals carrying copy number variants (CNVs) compared to population-based controls with no CNV. To date no study has investigated a possible correlation between GAF scores and CNV burden in patients with SZ.The aim of the present pilot study was to determine the influence of CNV burden on GAF scores in patients with a DSM-IV diagnosis of SZ at several points in time of their life (see below). Patients were recruited in Germany using an existing genome-wide CNV dataset (Priebe et al., 2013). Chromosomal regions prone to false-positive CNV calls eg telomeric and centromeric regions; see Levinson et al.(2011) were excluded. The analysis was restricted to “high-quality” CNVs (ie those spanning≥ 30 SNPs and with a confidence value/log Bayes Factor of≥ 30) that overlapped with at least one RefSeq gene.
DOI：
10.1176/appi.ajp.2010.10060876
发表时间：
2011-03
期刊：
The American journal of psychiatry
影响因子：
--
作者：
Levinson DF;Duan J;Oh S;Wang K;Sanders AR;Shi J;Zhang N;Mowry BJ;Olincy A;Amin F;Cloninger CR;Silverman JM;Buccola NG;Byerley WF;Black DW;Kendler KS;Freedman R;Dudbridge F;Pe'er I;Hakonarson H;Bergen SE;Fanous AH;Holmans PA;Gejman PV
通讯作者：
Gejman PV