Genome-wide scan for schizophrenia in the Finnish population:: evidence for a locus on chromosome 7q22
Genome-wide scan for schizophrenia in the Finnish population:: evidence for a locus on chromosome 7q22
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DOI：
10.1093/hmg/9.7.1049
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发表时间：
2000-04-12
影响因子：
3.5
通讯作者：
Peltonen, L
中科院分区：
文献类型：
--
作者：
Ekelund, J;Lichtermann, D;Peltonen, L
我们报告了在芬兰收集的134对精神分裂症患者的研究样本中进行四阶段全基因组扫描的结果。在第一阶段，我们对Weber 6筛选集中的370个标记进行了基因分型在第二阶段，我们通过对同胞对的一级亲属进行分型来追踪40个标记;在第三阶段，我们对134个家庭的15个标记进行基因分型;在第四阶段，我们在所有家庭中，在两个最有希望的区域，一个在1号染色体上，另一个在7号染色体上，对一个更密集的标记图进行基因分型。诊断是基于三个全国性的医疗保健登记册和基于所有医疗记录审查的共识诊断，最重要的发现是使用显性模型并治疗所有患有精神分裂症的个体，受影响的情感障碍或其他精神分裂症谱系障碍。MAPMAKER/SIBS的多点分析导致标记D7S501和D7S523之间的MLS为3.53，使用最广泛的诊断模型，除了上述表型之外，还包括重性抑郁症和双相I型。这些结果是通过在分析中仅包括来自世纪定居的芬兰晚期定居地区的个体而获得的。此外，在先前对来自芬兰亚分离株的研究样品进行全基因组扫描时鉴定的区域中，获得了与1号染色体连锁的一些支持，我们的数据表明，在复杂疾病的易感基因位点的研究，旨在确定的重要性。
We report the results of a four-stage genome-wide scan in a schizophrenia study sample consisting of 134 affected sib-pairs collected in Finland, In stage I we genotyped 370 markers from the Weber 6 screening set (N = 52 affected sib-pairs); in stage II we followed up 40 markers by typing first-degree relatives of the sib-pairs; in stage III we genotyped 15 markers in 134 families; and in stage IV we genotyped a denser marker map in the two most promising regions, one on chromosome 1 and another on chromosome 7, in all families, Diagnoses were based on three nationwide health care registers and consensus diagnosis based on review of all medical records, The most significant finding was a two-point lod score of 3.18 with marker D7S486 using a dominant model and treating all individuals with either schizophrenia, schizoaffective disorder or other schizophrenia spectrum disorder as affected. Multipoint analysis with MAPMAKER/SIBS resulted in a MLS of 3.53 between markers D7S501 and D7S523 using the broadest diagnostic model, including major depressive disorder and bipolar type I as affecteds in addition to the aforementioned phenotypes. These results were obtained by including in the analyses only individuals from the late settlement region of Finland settled in the 16th century, Additionally, some support was obtained for linkage to chromosome 1, in a region previously identified in a genome-wide scan of a study sample from a sub-isolate of Finland, Our data demonstrate the importance of genealogical information for studies aiming at identification of predisposing loci in complex diseases.