Suppr超能文献

精神分裂症的父系遗传及遗传早现

Paternal transmission and anticipation in schizophrenia.

作者信息

Husted J, Scutt L E, Bassett A S

机构信息

Department of Health Studies and Gerontology, University of Waterloo, Ontario, Canada.

出版信息

Am J Med Genet. 1998 Mar 28;81(2):156-62.

Abstract

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.

摘要

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。

相似文献

1
Paternal transmission and anticipation in schizophrenia.
Am J Med Genet. 1998 Mar 28;81(2):156-62.
3
Study of anticipation in Chinese families with schizophrenia.
Psychiatry Clin Neurosci. 2001 Apr;55(2):137-40. doi: 10.1046/j.1440-1819.2001.00801.x.
4
Age at onset anticipation in familial schizophrenia. Does the phenomenon even exist?
Schizophr Res. 1999 Nov 9;40(1):55-65. doi: 10.1016/s0920-9964(99)00028-6.
5
Anticipation and imprinting in Spanish families with schizophrenia.
Acta Psychiatr Scand. 1998 May;97(5):343-50. doi: 10.1111/j.1600-0447.1998.tb10013.x.
7
Anticipation and imprinting in schizophrenia.
Biol Psychiatry. 1997 Nov 1;42(9):760-6. doi: 10.1016/s0006-3223(97)00022-x.
8
Anticipation in Swedish families with schizophrenia.
Psychiatr Genet. 1995 Winter;5(4):181-6. doi: 10.1097/00041444-199524000-00006.
9
Anticipation in multiplex schizophrenia pedigrees.
Psychiatr Genet. 1996 Spring;6(1):7-11. doi: 10.1097/00041444-199621000-00002.
10
Further evidence for anticipation in schizophrenia.
Psychiatry Res. 1995 Nov 29;59(1-2):25-33. doi: 10.1016/0165-1781(95)02778-5.

引用本文的文献

2
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mol Psychiatry. 2022 Sep;27(9):3692-3698. doi: 10.1038/s41380-022-01575-x. Epub 2022 May 12.
3
Risk factors for autism spectrum disorder in the Thai population.
Eur J Pediatr. 2015 Oct;174(10):1365-72. doi: 10.1007/s00431-015-2544-2. Epub 2015 Apr 23.
4
Parent-of-origin Effect in Schizophrenia and Non-affective Psychoses: Evidence from Dermatoglyphics.
Indian J Psychol Med. 2013 Jul;35(3):260-7. doi: 10.4103/0253-7176.119481.
5
Schizophrenia and birthplace of paternal and maternal grandfather in the Jerusalem perinatal cohort prospective study.
Schizophr Res. 2009 Jun;111(1-3):23-31. doi: 10.1016/j.schres.2009.03.022. Epub 2009 Apr 9.
6
Elevated rates of schizophrenia in a familial sample with mental illness and intellectual disability.
J Intellect Disabil Res. 2004 Sep;48(Pt 6):531-9. doi: 10.1111/j.1365-2788.2004.00621.x.
7
Molecular genetics of schizophrenia: a critical review.
J Psychiatry Neurosci. 2003 Nov;28(6):415-29.
8
Paternal factors and schizophrenia risk: de novo mutations and imprinting.
Schizophr Bull. 2001;27(3):379-93. doi: 10.1093/oxfordjournals.schbul.a006882.

本文引用的文献

1
The Huxley Lecture ON HEREDITARY ASPECTS OF NERVOUS AND MENTAL DISEASES.
Br Med J. 1910 Oct 8;2(2597):1013-20. doi: 10.1136/bmj.2.2597.1013.
2
Genetic anticipation and imprinting in bipolar I illness.
Br J Psychiatry. 1997 Feb;170:162-6. doi: 10.1192/bjp.170.2.162.
4
Reproductive fitness in familial schizophrenia.
Schizophr Res. 1996 Sep 18;21(3):151-60. doi: 10.1016/0920-9964(96)00018-7.
5
Genomic imprinting and the differential roles of parental genomes in brain development.
Brain Res Dev Brain Res. 1996 Mar 29;92(1):91-100. doi: 10.1016/0165-3806(95)00209-x.
6
Anticipation in schizophrenia: new light on a controversial problem.
Am J Psychiatry. 1996 Sep;153(9):1173-7. doi: 10.1176/ajp.153.9.1173.
7
Imprinted genes and regulation of gene expression by epigenetic inheritance.
Curr Opin Cell Biol. 1996 Jun;8(3):348-53. doi: 10.1016/s0955-0674(96)80008-1.
9
Establishing the onset of psychotic illness.
Am J Psychiatry. 1993 Sep;150(9):1349-54. doi: 10.1176/ajp.150.9.1349.
10
Anticipation in bipolar affective disorder.
Am J Hum Genet. 1993 Aug;53(2):385-90.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验