Kendler Kenneth S, Klee Astrid
Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia, USA.
Department of Psychiatry, Medical College of Virginia/Virginia Commonwealth University, Richmond, Virginia, USA.
Am J Med Genet B Neuropsychiatr Genet. 2022 Jan;189(1-2):26-36. doi: 10.1002/ajmg.b.32886. Epub 2022 Jan 13.
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.
本文介绍了1929年至1933年由弗朗茨·卡尔曼在柏林进行的精神病遗传学史上规模最大的基于实地调查的家庭研究之一的历史背景和主要发现。该研究涵盖了1000多名精神分裂症先证者及其12500名亲属，包括兄弟姐妹、后代、侄子女和孙辈。这项工作是卡尔曼与慕尼黑的吕丁、舒尔茨和卢森伯格密切合作进行分析的。卡尔曼出生于犹太父母家庭，1936年不得不离开德国，并于1938年在美国完成并出版了这本专著。与1916年吕丁的经典同胞研究相比，这项研究在方法上有许多进步：（a）对多类亲属进行联合分析；（b）将精神分裂症细分为四种亚型；（c）关注类精神分裂人格[类精神分裂症]；（d）研究精神分裂症的家族聚集性；（e）采用更复杂的遗传模型——精神分裂症由一个具有70%外显率的单隐性基因和背景多基因影响引起，类精神分裂症由杂合子引起。卡尔曼发现核心型和外周型亲属的患病风险存在重要差异，并得出结论，类精神分裂症是精神分裂症疾病复合体的一部分，而其他精神疾病、低能和器质性脑障碍则不是。卡尔曼对其研究结果的优生学意义投入了大量精力。
