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广泛性社交恐惧症中焦虑相关数量性状的家族聚集性:理解“障碍”遗传力的线索?

Familial aggregation of anxiety-related quantitative traits in generalized social phobia: clues to understanding "disorder" heritability?

作者信息

Stein M B, Chartier M J, Lizak M V, Jang K L

机构信息

Department of Psychiatry, University of California, San Diego, La Jolla 92093-0985, USA.

出版信息

Am J Med Genet. 2001 Jan 8;105(1):79-83.

Abstract

Social phobia, particularly the generalized form, is strongly familial. Given the probable continuity from extremes of normative personality (e.g., shyness) to social phobia to personality disorder (e.g., avoidant personality disorder), it is unlikely that social phobia itself, at the level of an Axis I disorder, is transmitted. Rather, it seems more parsimonious, and in keeping with current notions about the structure and heritability of mental disorders, that one or more temperamental risk factors for social phobia is transmitted. The goal of this study was to explore this possibility by examining relevant quantitative traits in a family study of generalized social phobia (GSP). First-degree (n = 103) relatives of patients with DSM-IV GSP and 65 first-degree relatives of not socially phobic comparison subjects (NC) completed a panel of self-report questionnaires that included measures of trait anxiety, social anxiety, and personality. Regression analysis was used to examine associations between group membership (i.e., whether that family member was a first-degree relative of a GSP proband) and these measures. First-degree relatives of GSP probands scored significantly higher than first-degree relatives of not socially phobic probands on measures of trait anxiety and social anxiety and on the Harm Avoidance subscale of the TPQ. One large factor, accounting for 84% of the variance, was strongly associated with being a first-degree relative of a GSP proband. Quantitative traits elevated in probands with generalized social phobia are also elevated in their first-degree relatives. Future family and genetic studies of social phobia should consider the possibility that one or more traits (or some aggregation thereof) may better approximate the phenotype of interest. More extensive efforts at phenotype refinement should be undertaken before such studies proceed.

摘要

社交恐惧症,尤其是广泛性社交恐惧症,具有很强的家族遗传性。鉴于从正常人格的极端情况(如害羞)到社交恐惧症再到人格障碍(如回避型人格障碍)可能存在连续性,社交恐惧症本身作为一种轴I障碍,不太可能直接遗传。相反,更简约的观点,也是与当前关于精神障碍结构和遗传性的观念相符的观点是,社交恐惧症的一个或多个气质性风险因素会被遗传。本研究的目的是通过在一项广泛性社交恐惧症(GSP)的家族研究中检查相关的数量性状来探索这种可能性。DSM-IV广泛性社交恐惧症患者的一级亲属(n = 103)和65名非社交恐惧症对照受试者(NC)的一级亲属完成了一组自我报告问卷调查,其中包括特质焦虑、社交焦虑和人格测量。回归分析用于检验组群归属(即该家庭成员是否为广泛性社交恐惧症先证者的一级亲属)与这些测量指标之间的关联。广泛性社交恐惧症先证者的一级亲属在特质焦虑、社交焦虑测量以及TPQ的回避伤害分量表上的得分显著高于非社交恐惧症先证者的一级亲属。一个解释了84%方差的大因子与作为广泛性社交恐惧症先证者的一级亲属密切相关。广泛性社交恐惧症先证者中升高的数量性状在其一级亲属中也升高。未来社交恐惧症的家族和遗传学研究应考虑这样一种可能性,即一个或多个性状(或其某种组合)可能更接近感兴趣的表型。在进行此类研究之前,应做出更广泛的努力来细化表型。

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