Association of variants in DISC1 with psychosis-related traits in a large population cohort.
Association of variants in DISC1 with psychosis-related traits in a large population cohort.
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DOI：
10.1001/archgenpsychiatry.2008.524
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发表时间：
2009-02
影响因子：
--
通讯作者：
Ekelund, Jesper
中科院分区：
文献类型：
--
作者：
Tomppo, Liisa;Hennah, William;Miettunen, Jouko;Jarvelin, Marjo-Riitta;Veijola, Juha;Ripatti, Samuli;Lahermo, Paivi;Lichtermann, Dirk;Peltonen, Leena;Ekelund, Jesper
来自人类遗传学研究和动物模型的大量数据表明，精神分裂症1基因中断(DISC1)在精神分裂症和其他主要精神疾病的病因学中扮演着重要角色。目的：研究DISC1的危险等位基因对未选择人群中精神病数量中间表型的影响。我们检测了DISC1中的41个单核苷酸多态，并进行了与4个数量表型的关联测试。学术研究。来自芬兰未经选择的出生队列的个人。最初，1966年出生在集水区的所有人(N=12058)都包括在研究中。在这些人中，4651人(38.6%)参加了31年的随访，可以纳入研究。选择4种心理测量工具作为精神障碍积极和消极方面的代用工具，包括知觉畸变量表、修订的社会性失调量表、修订的生理失调量表和Golden和Meehl的精神分裂量表。携带标记rs821577的等位基因携带者在社会性快感缺乏症上的得分显著高于对照组(P<；.001)。当依赖于标记rs1538979和rs821577的次要等位基因缺失时，标记rs821633的次要等位基因与社交快感缺乏症的得分显著相关(P<；.001)。DISC1的变异会影响社交快感缺失的水平，这是普通人群中精神分裂症的主要症状。DISC1可能比之前认为的对人类心理功能更重要，因为它似乎影响人们享受社会互动的程度。
There is an abundance of data from human genetic studies and animal models that implies a role for the disrupted in schizophrenia 1 gene (DISC1) in the etiology of schizophrenia and other major mental illnesses. To study the effect of previously identified risk alleles of DISC1 on quantitative intermediate phenotypes for psychosis in an unselected population. We examined 41 single-nucleotide polymorphisms within DISC1 and performed tests of association with 4 quantitative phenotypes. Academic research. Individuals from an unselected birth cohort in Finland. Originally, everyone born in the catchment area in 1966 (N=12 058) was included in the study. Of these, 4651 (38.6%) attended the 31-year follow-up and could be included in the study. Scores on 4 psychometric instruments selected to function as proxies for positive and negative aspects of psychotic disorders, including the Perceptual Aberration Scale, Revised Social Anhedonia Scale, Revised Physical Anhedonia Scale, and Schizoidia Scale by Golden and Meehl. Carriers of the minor allele of marker rs821577 had significantly higher scores on social anhedonia (P<.001). The minor allele of marker rs821633 was strongly associated with lower scores on social anhedonia when analyzed dependent on the absence of the minor alleles of markers rs1538979 and rs821577 (P<.001). Variants in DISC1 affect the level of social anhedonia, a cardinal symptom of schizophrenia in the general population. DISC1 might be more central to human psychological functioning than previously thought, as it seems to affect the degree to which people enjoy social interactions.
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DOI：
10.1073/pnas.0706900104
发表时间：
2007-11-13
影响因子：
11.1
作者：
Li, Weidong;Zhou, Yu;Cannon, Tyrone D.
通讯作者：
Cannon, Tyrone D.
影响因子：
3.5
作者：
Hennah, W;Varilo, T;Ekelund, J
通讯作者：
Ekelund, J
影响因子：
4.6
作者：
CHAPMAN, LJ;CHAPMAN, JP;ZINSER, MC
通讯作者：
ZINSER, MC
影响因子：
11
作者：
Ekelund, J;Hennah, W;Peltonen, L
通讯作者：
Peltonen, L
影响因子：
3.5
作者：
Ekelund, J;Lichtermann, D;Peltonen, L
通讯作者：
Peltonen, L