Husted J, Scutt L E, Bassett A S
Department of Health Studies and Gerontology, University of Waterloo, Ontario, Canada.
Am J Med Genet. 1998 Mar 28;81(2):156-62.
Recent studies have observed anticipation (earlier age at onset (AAO) or increased disease severity in successive generations) in familial schizophrenia. In other disorders, where the molecular mechanism (repeat expansion) is known, anticipation varies in degree depending on the sex of the transmitting parent. We investigated parental sex effects on anticipation in schizophrenia, using a familial sample of affected two-generation pairs in which anticipation had previously been demonstrated using the median intergenerational difference (MID) in AAO. A Wilcoxon rank sum test for independent samples was used to determine whether MID in AAO was significantly different for paternal and maternal transmission. Results suggested that in a sample of 127 parent-offspring pairs, anticipation was greater with paternal than with maternal transmission (MID = 18 and 14 years, respectively, P = 0.05). Paternal effects were strongest in 39 parent-offspring pairs with early-onset offspring (< or = 21 years) (MID = 22 and 17 years, respectively, for paternal and maternal transmission, P = 0.01). However, assessment of the effect of possible selection biases suggests that preferential ascertainment of late-onset fathers may have exerted important effects. While the results support possible paternal effects, further studies are needed to draw firm conclusions about true parent-of-origin effects on anticipation in familial schizophrenia.
最近的研究观察到家族性精神分裂症存在遗传早现现象(发病年龄提前(AAO)或连续几代疾病严重程度增加)。在其他已知分子机制(重复序列扩增)的疾病中,遗传早现的程度因传递亲本的性别而异。我们使用一个受影响的两代配对的家族样本,其中先前已使用发病年龄的代际中位数差异(MID)证明了遗传早现现象,研究了精神分裂症遗传早现中的亲本性别效应。采用独立样本的Wilcoxon秩和检验来确定发病年龄的MID在父系和母系传递中是否存在显著差异。结果表明,在127对亲子对样本中,父系传递的遗传早现比母系传递更明显(MID分别为18岁和14岁,P = 0.05)。在39对后代早发(≤21岁)的亲子对中,父系效应最强(父系和母系传递的MID分别为22岁和17岁,P = 0.01)。然而,对可能的选择偏倚效应的评估表明,晚发父亲的优先确定可能产生了重要影响。虽然结果支持可能存在父系效应,但需要进一步研究才能就家族性精神分裂症遗传早现中真正的亲本来源效应得出确凿结论。