A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci
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DOI：
10.1086/302567
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发表时间：
1999-10-01
影响因子：
9.8
通讯作者：
Peltonen, L
中科院分区：
文献类型：
--
作者：
Hovatta, I;Varilo, T;Peltonen, L
精神分裂症是一种严重的精神障碍，影响着世界上大约1%的人口。在这里，我们报告的结果，从一个三阶段的全基因组筛选的研究样本从芬兰的内部分离。一项努力是确定基因易感精神分裂症，可能是丰富的这种隔离，这有一个非常高的终身风险，这一特点。当地患有精神分裂症的家族的祖先可以追溯到世纪的人口基础。该系谱信息被用作研究策略的基础，该策略包括筛选源自共同祖先的受影响个体之间共享的等位基因。我们发现四个染色体区域具有揭示成对LOD得分>1.0的标记：1q32.2-q41（Z（max）= 3.82，显性仅受影响模型），4 q31（Z（max）= 2.74，显性90%-显性遗传模型），9 q21（Z（max）= 1.95，显性90%-显性遗传模型）和Xp11.4-p11.3（Z（max）= 2.01，隐性90%-半隐性模型）。这一发现表明，有几个假定的基因座易患精神分裂症，即使在这个隔离。
Schizophrenia is a severe mental disorder affecting similar to 1% of the world's population. Here, we report the results from a three-stage genomewide screen performed in a study sample from an internal isolate of Finland. An effort was made to identify genes predisposing for schizophrenia that are potentially enriched in this isolate, which has an exceptionally high lifetime risk for this trait. Ancestors of the local families with schizophrenia were traced back to the foundation of the population in the 17th century. This genealogical information was used as the basis for the study strategy, which involved screening for alleles shared among affected individuals originating from common ancestors. We found four chromosomal regions with markers revealing pairwise LOD scores >1.0: 1q32.2-q41 (Z(max) = 3.82, dominant affecteds-only model), 4q31 (Z(max) = 2.74, dominant 90%-penetrance model), 9q21 (Z(max) = 1.95, dominant 90%-penetrance model), and Xp11.4-p11.3 (Z(max) = 2.01, recessive 90%-penetrance model). This finding suggests that there are several putative loci predisposing to schizophrenia, even in this isolate.