Stöber G, Haubitz I, Franzek E, Beckmann H
Department of Psychiatry, University of Würzburg, Germany.
Psychiatr Genet. 1998 Winter;8(4):213-9. doi: 10.1097/00041444-199808040-00003.
In a family study involving 83 probands with periodic catatonia a subtype of DSM IIIR schizophrenia, we reported an age-specific morbidity risk of 26.9% in first-degree relatives with homotypical psychoses and genetic anticipation indicating a possible major gene effect. Paternal transmission was associated with a trend for a younger age at onset in probands compared to that observed in the case of maternal transmission (P = 0.099). If this can be confirmed in a larger sample and then replicated, there would be evidence for the occurrence of a parent-of-origin effect. Such an observation may indicate that a paternally imprinted locus acts on periodic catatonia. Among the non-genetic mechanisms that may modify the penetrance of the disease, paternal affection did lead to a decrease in male offspring (P = 0.007) and maternal affection showed an increased frequency of non-affected male offspring (P = 0.021). We therefore propose that parent-of-origin effects as well as prenatal mortality and psychosocial factors need further investigation in the periodic catatonia subtype of schizophrenia.
在一项针对83名周期性紧张症(DSM-IIIR精神分裂症的一种亚型)先证者的家族研究中,我们报告了患有同型精神病的一级亲属中特定年龄的发病风险为26.9%,且存在遗传早现现象,这表明可能存在主要基因效应。与母系遗传相比,父系遗传的先证者发病年龄有更年轻的趋势(P = 0.099)。如果这一点能在更大样本中得到证实并随后被重复验证,那么就会有证据表明存在亲本来源效应。这样的观察结果可能表明一个父系印记基因座作用于周期性紧张症。在可能改变疾病外显率的非遗传机制中,父亲的关爱确实导致男性后代发病率降低(P = 0.007),而母亲的关爱则显示未受影响的男性后代频率增加(P = 0.021)。因此,我们建议在精神分裂症的周期性紧张症亚型中,亲本来源效应以及产前死亡率和社会心理因素需要进一步研究。