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根据临床特征在瑞典国家登记处选择重度精神疾病和物质使用障碍病例,以最大化遗传风险的强度或特异性。

Selecting cases of major psychiatric and substance use disorders in Swedish national registries on the basis of clinical features to maximize the strength or specificity of the genetic risk.

作者信息

Kendler Kenneth S, Ohlsson Henrik, Sundquist Jan, Sundquist Kristina

机构信息

Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.

Department of Psychiatry, Virginia Commonwealth University, Richmond, VA, USA.

出版信息

Mol Psychiatry. 2023 Dec;28(12):5195-5205. doi: 10.1038/s41380-023-02156-2. Epub 2023 Jul 6.

DOI:10.1038/s41380-023-02156-2
PMID:37414926
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10832579/
Abstract

We investigate how selection of psychiatric cases by phenotypic criteria can alter the strength and specificity of their genetic risk by examining samples from national Swedish registries for five disorders: major depression (MD, N = 158,557), drug use disorder (DUD, N = 69,841), bipolar disorder (BD, N = 13,530)) ADHD (N = 54,996) and schizophrenia (N = 11,227)). We maximized the family genetic risk score (FGRS) for each disorder and then the specificity of the FGRS in six disorder pairs by univariable and multivariable regression. We use split-half methods to divide our cases for each disorder into deciles for prediction of genetic risk magnitude and quintiles for prediction of specificity by FGRS differences between two disorders. We utilized seven predictor groups: demography/sex, # registrations, site of diagnosis, severity, comorbidity, treatment, and educational/social variables. The ratio of the FGRS in the upper vs two lower deciles from our multivariable prediction model was, in order, DUD - 12.6, MD - 4.9, BD - 4.5, ADHD - 3.3 and schizophrenia 1.4. From the lowest to highest quintile, our measures of genetic specificity increased more than five-fold for i) MD vs. Anxiety Disorders, ii) MD vs BD, iii) MD versus alcohol use disorder (AUD), iv) BD vs schizophrenia and v) DUD vs AUD. This increase was nearly two-fold for ADHD vs DUD. We conclude that the level of genetic liability for our psychiatric disorders could be substantially enriched by selection of cases with our predictors. Specificity of genetic risk could also be substantially impacted by these same predictors.

摘要

我们通过检查瑞典国家登记处的五种疾病样本,研究了根据表型标准选择精神疾病病例如何改变其遗传风险的强度和特异性:重度抑郁症(MD,N = 158,557)、药物使用障碍(DUD,N = 69,841)、双相情感障碍(BD,N = 13,530)、注意力缺陷多动障碍(ADHD,N = 54,996)和精神分裂症(N = 11,227)。我们通过单变量和多变量回归,最大化了每种疾病的家族遗传风险评分(FGRS),然后是六个疾病对中FGRS的特异性。我们使用折半法将每种疾病的病例分为十分位数以预测遗传风险大小,分为五分位数以通过两种疾病之间的FGRS差异预测特异性。我们使用了七个预测变量组:人口统计学/性别、登记次数、诊断地点、严重程度、共病、治疗以及教育/社会变量。我们多变量预测模型中FGRS在最高十分位数与两个最低十分位数中的比率依次为:DUD - 12.6、MD - 4.9、BD - 4.5、ADHD - 3.3和精神分裂症1.4。从最低到最高五分位数,我们的遗传特异性指标在以下情况中增加了五倍多:i)MD与焦虑症、ii)MD与BD、iii)MD与酒精使用障碍(AUD)、iv)BD与精神分裂症以及v)DUD与AUD。对于ADHD与DUD,这种增加近两倍。我们得出结论,通过使用我们的预测变量选择病例,可以大幅提高我们精神疾病的遗传易感性水平。这些相同的预测变量也可能对遗传风险的特异性产生重大影响。

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本文引用的文献

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2
Genetic liability to suicide attempt, suicide death, and psychiatric and substance use disorders on the risk for suicide attempt and suicide death: a Swedish national study.遗传易感性与自杀未遂、自杀死亡以及精神障碍和物质使用障碍对自杀未遂和自杀死亡风险的影响:一项瑞典全国性研究。
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3
Bruno Schulz's 1933 Monograph: On the Hereditary Etiology of Schizophrenia.
布鲁诺·舒尔茨的 1933 年专题论文:精神分裂症的遗传病因学。
Schizophr Bull. 2022 Oct 19;48(Suppl 1):S45-S55. doi: 10.1093/schbul/sbac111.
4
An Extended Swedish Adoption Study of Anxiety Disorder and Its Cross-Generational Familial Relationship With Major Depression.一项关于焦虑症及其与重度抑郁症的跨代家族关系的瑞典扩展收养研究。
Am J Psychiatry. 2022 Sep;179(9):640-649. doi: 10.1176/appi.ajp.21111110.
5
Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder.儿童注意缺陷多动障碍常见和罕见变异的遗传结构差异,持续性和晚发性注意缺陷多动障碍。
Nat Genet. 2022 Aug;54(8):1117-1124. doi: 10.1038/s41588-022-01143-7. Epub 2022 Aug 4.
6
Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis.分析生物行为、功能基因组和分子遗传学水平上 11 种主要精神疾病的遗传结构。
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7
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Neuropsychopharmacology. 2022 Sep;47(10):1739-1745. doi: 10.1038/s41386-021-01209-w. Epub 2021 Nov 8.
10
The impact of sex, age at onset, recurrence, mode of ascertainment and medical complications on the family genetic risk score profiles for alcohol use disorder.性别、发病年龄、复发、确定方式以及医疗并发症对酒精使用障碍家族遗传风险评分特征的影响。
Psychol Med. 2023 Apr;53(5):1732-1740. doi: 10.1017/S0033291721003317. Epub 2021 Oct 8.