Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Department of Clinical Sciences and Psychiatry, University of Umeå, Umeå, Sweden.
Transl Psychiatry. 2019 Feb 4;9(1):60. doi: 10.1038/s41398-019-0414-9.
We searched for genetic causes of major psychiatric disorders (bipolar disorder, schizoaffective disorder, and schizophrenia) in a large, densely affected pedigree from Northern Sweden that originated with three pairs of founders born around 1650. We applied a systematic genomic approach to the pedigree via karyotyping (N = 9), genome-wide SNP arrays (N = 418), whole-exome sequencing (N = 26), and whole-genome sequencing (N = 10). Comprehensive analysis did not identify plausible variants of strong effect. Rather, pedigree cases had significantly higher genetic risk scores compared to pedigree and community controls.
我们在一个来自瑞典北部的大型、高度受影响的家系中搜索了主要精神疾病(双相情感障碍、分裂情感障碍和精神分裂症)的遗传原因,该家系起源于大约 1650 年出生的三对创始人。我们通过染色体核型分析(N=9)、全基因组 SNP 芯片(N=418)、外显子组测序(N=26)和全基因组测序(N=10)对家系进行了系统的基因组分析。综合分析未发现具有强效应的合理变体。相反,与家系和社区对照相比,家系病例的遗传风险评分显著更高。