Swift R G, Perkins D O, Chase C L, Sadler D B, Swift M
Department of Medicine, University of North Carolina, School of Medicine, Chapel Hill.
Am J Psychiatry. 1991 Jun;148(6):775-9. doi: 10.1176/ajp.148.6.775.
The purpose of this study was to test the hypothesis that heterozygous carriers of the gene for the Wolfram syndrome, who constitute about 1% of the population, are predisposed to significant psychiatric illness. The Wolfram syndrome is an autosomal recessive neurodegenerative syndrome in which 25% of the individuals who are homozygous for the condition have severe psychiatric symptoms that lead to suicide attempts or psychiatric hospitalizations.
The authors collected questionnaires, death certificates, and hospital records for blood relatives and their spouses in 36 families of individuals with the Wolfram syndrome and compared the proportion of blood relatives who had had psychiatric hospitalizations, had committed suicide, or had self-reported mental illness to the proportion of spouses with the same manifestations.
The proportion of blood relatives who had had psychiatric hospitalizations, had committed suicide, or had self-reported mental illness significantly exceeded the proportion of spouses with the same manifestations.
Since heterozygous carriers of the gene for the Wolfram syndrome are 50-fold more common among the blood relatives than among the spouses, the larger proportion among blood relatives is evidence that heterozygous carriers of the gene for the Wolfram syndrome are predisposed to significant psychiatric illness.
本研究旨在检验如下假设：构成约1%人口的沃尔弗拉姆综合征基因杂合携带者易患严重精神疾病。沃尔弗拉姆综合征是一种常染色体隐性神经退行性综合征，其中25%的该病症纯合个体有导致自杀企图或精神科住院治疗的严重精神症状。
作者收集了36个患有沃尔弗拉姆综合征个体的家庭中其血亲及其配偶的问卷、死亡证明和医院记录，并将有精神科住院治疗、自杀或自我报告有精神疾病的血亲比例与有相同表现的配偶比例进行比较。
有精神科住院治疗、自杀或自我报告有精神疾病的血亲比例显著超过有相同表现的配偶比例。
由于沃尔弗拉姆综合征基因杂合携带者在血亲中比在配偶中常见50倍，血亲中较大的比例证明沃尔弗拉姆综合征基因杂合携带者易患严重精神疾病。
