Schizophrenia spectrum disorders: an autosomal-wide scan in multiplex pedigrees
Schizophrenia spectrum disorders: an autosomal-wide scan in multiplex pedigrees
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DOI：
10.1016/s0920-9964(01)00157-8
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发表时间：
2001-12-01
影响因子：
4.5
通讯作者：
Barnes, B
中科院分区：
文献类型：
--
作者：
Garver, DL;Holcomb, J;Barnes, B
全基因组连锁研究检查了精神分裂症综合征与人类基因组内可能的易感区域之间的关系，已经确定了可以探索与该综合征的多个区域。尚未发现任何区域可以为所有队列中的关联提供支持证据。这些发现与精神分裂症综合征的遗传异质性一致，遗传易感性来自多个位点，这些位点在不同的谱系中分布不同。作者提供了对 30 个多重谱系进行常染色体全扫描的数据，每个谱系平均有 4.1 名成员患有精神分裂症谱系障碍，以及与精神分裂症谱系疾病相关的感兴趣区域。 Shaw 等人描述的 D1S518 易感位点（P = 0.029）的部分复制，尽管不是显着复制。 （1998 年：Shaw, S.H.、Kelly, M.、Smith, A.B.、Shields, G.、Hopkins, P.J. Loftus, J.、Laval, SM.、Vita, A.、DeHert, M.、Cardon, L.R.、Crow, T.J.、Sherrington, R.、DeLisi, L.E.，1998 年。精神分裂症易感基因。Am. J. Genet. (Neuropsychiatric Genet.) 81, 364-376.)，并由 Silverman 等人描述。 （1996 年：Silverman, J.M.、Greenberg, D.A.、Altstiel, L.D.、Siever, L.J.、Mohs, R.C.. Smith, C.J.、Zhou, G.、Hollander, T.Y.、Yang, X.-P.、Kedache, M.、Li, G.、Zaccario, M.L.、Davis, K,L.，1996 年。使用多点非参数 (NPL) 统计记录了 5 号染色体短臂上的精神分裂症和相关疾病的基因座 Am. J. Genet. 67, 162-171。在 D1S1150 (P = 0.004) 和 D20S171 (P = 0.009) 确定了另外两个值得进一步研究的新区域。先前报道的精神分裂症感兴趣的基因组区域在与当前谱系队列使用的相同/侧翼标记的背景下进行了回顾。数据进一步表明，只有一小部分精神分裂症多重谱系与任何单一易感区域有关。 (C) 2001 Elsevier Science B.V. 保留所有权利。
Genome-wide linkage studies, examining the relationship between the schizophrenia syndrome(s) and possible susceptibility regions within the human genome have identified multiple regions within which linkage to the syndrome may be explored. No regions have been found to provide supportive evidence for linkage in all cohorts. These findings are consistent with the schizophrenia syndrome being genetically heterogeneous, with genetic susceptibility arising from multiple sites which are differentially distributed in from pedigree to pedigree. The authors present data from an autosomal-wide scan of 30 multiplex pedigrees, each with a mean of 4.1 members affected with a schizophrenia spectrum disorder with respect to regions of interest for linkage with the schizophrenia spectrum disease(s). Partial, though not significant replications of susceptibility sites at D1S518 (P = 0.029) described by Shaw et al. (1998: Shaw, S.H., Kelly, M., Smith, A.B., Shields, G., Hopkins, P.J. Loftus, J., Laval, SM., Vita, A., DeHert, M., Cardon, L.R., Crow, T.J., Sherrington, R., DeLisi, L.E., 1998. A Genome-wide search for schizophrenia susceptibility genes. Am. J. Med. Genet. (Neuropsychiatric Genet.) 81, 364-376.), and at D5S426 (P = 0.015) described by Silverman et al. (1996: Silverman, J.M., Greenberg, D.A., Altstiel, L.D., Siever, L.J., Mohs, R.C.. Smith, C.J., Zhou, G., Hollander, T.Y., Yang, X.-P., Kedache, M., Li, G., Zaccario, M.L., Davis, K,L., 1996. Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree. Am. J. Med. Genet. 67, 162-171.) were documented using multipoint non-parametric (NPL) statistics. Two additional novel regions worthy of further investigation were identified at D1S1150 (P = 0.004) and at D20S171 (P = 0.009). Previously reported genomic regions of interest for the schizophrenias are reviewed in the context of the same/flanking markers utilized with the present cohort of pedigrees. The data further suggests that only a fraction of pedigrees multiplex for schizophrenia link at any single susceptibility region. (C) 2001 Elsevier Science B.V. All rights reserved.