弗兰兹·卡尔曼1938年的《精神分裂症的遗传学》在精神病学遗传学史上的地位

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2022-01-13 DOI:10.1002/ajmg.b.32886
Kenneth S. Kendler, Astrid Klee
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引用次数: 3

摘要

这篇文章提供了历史背景和主要发现,这是精神病遗传学历史上由Franz Kallmann从1929年到1933年在柏林进行的最大的基于实地工作的家庭研究之一。其中包括1000多名精神分裂症先证者和12500名他们的亲属,包括兄弟姐妹、子女、侄女/侄子和孙子孙女。这项工作是与慕尼黑的r丁、舒尔茨和卢森伯格密切合作进行的。出生于犹太家庭的卡尔曼不得不在1936年离开德国,并于1938年在美国完成并出版了这部专著。这项研究在方法上比1916年经典的r兄弟姐妹研究有了许多进步:(a)对多类亲属的联合分析;(b)精神分裂症细分为四种亚型;(c)专注于分裂人格[分裂];(d)精神分裂症家族聚集性检查;(e)更复杂的遗传模型——精神分裂症是由具有70%外显率和背景多基因影响的单隐性基因引起的,分裂是由杂合子引起的。Kallmann发现核亚型和外周亚型亲属的风险存在重要差异,并得出结论,分裂是精神分裂症疾病复合体的一部分,而其他精神疾病、弱智和器质性脑障碍则不是。卡尔曼对他的研究结果的优生学含义非常投入。
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The place of Franz Kallmann's 1938 “the genetics of schizophrenia” in the history of psychiatric genetics

This essay provides the historical context and key findings of one of the largest fieldwork-based family studies ever done in the history of psychiatric genetics conducted in Berlin by Franz Kallmann from 1929 to 1933. It included over 1,000 schizophrenic probands and 12,500 of their relatives including siblings, offspring, nieces/nephews and grandchildren. The work was analyzed in close collaboration with Rüdin, Schulz, and Luxenburger in Munich. Born of Jewish parents, Kallmann had to leave Germany in 1936, completing and publishing the monograph in the United States in 1938. This study included a number of methodologic advances over the classic 1916 sibling study of Rüdin: (a) joint analysis of multiple classes of relatives; (b) subdivision of schizophrenia into four subtypes; (c) a focus on schizoid personality [schizoidia]; (d) examination of the familial aggregation of schizophrenia; and (e) a more complex genetic model—with schizophrenia arising from a single-recessive gene with 70% penetrance and background polygenic influences, and schizoidia from heterozygotes. Kallmann found important differences in risk of relatives in nuclear versus peripheral subtypes and concluded that schizoidia was a part of schizophrenia disease complex while other psychopathies, feeblemindedness, and organic brain disorders were not. Kallmann was strongly invested in the eugenic implications of his results.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
期刊最新文献
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