全基因组的单倍体缺失会增加双相情感障碍的风险。
Singleton deletions throughout the genome increase risk of bipolar disorder.
作者信息
Zhang D, Cheng L, Qian Y, Alliey-Rodriguez N, Kelsoe J R, Greenwood T, Nievergelt C, Barrett T B, McKinney R, Schork N, Smith E N, Bloss C, Nurnberger J, Edenberg H J, Foroud T, Sheftner W, Lawson W B, Nwulia E A, Hipolito M, Coryell W, Rice J, Byerley W, McMahon F, Schulze T G, Berrettini W, Potash J B, Belmonte P L, Zandi P P, McInnis M G, Zöllner S, Craig D, Szelinger S, Koller D, Christian S L, Liu C, Gershon E S
机构信息
Department of Psychiatry and Behavioral Neuroscience, The University of Chicago, Chicago, IL 60637, USA.
出版信息
Mol Psychiatry. 2009 Apr;14(4):376-80. doi: 10.1038/mp.2008.144. Epub 2008 Dec 30.
An overall burden of rare structural genomic variants has not been reported in bipolar disorder (BD), although there have been reports of cases with microduplication and microdeletion. Here, we present a genome-wide copy number variant (CNV) survey of 1001 cases and 1034 controls using the Affymetrix single nucleotide polymorphism (SNP) 6.0 SNP and CNV platform. Singleton deletions (deletions that appear only once in the dataset) more than 100 kb in length are present in 16.2% of BD cases in contrast to 12.3% of controls (permutation P=0.007). This effect was more pronounced for age at onset of mania <or=18 years old. Our results strongly suggest that BD can result from the effects of multiple rare structural variants.
尽管已有关于微重复和微缺失病例的报道，但双相情感障碍（BD）中罕见结构基因组变异的总体负担尚未见报道。在此，我们使用Affymetrix单核苷酸多态性（SNP）6.0 SNP和CNV平台，对1001例病例和1034例对照进行了全基因组拷贝数变异（CNV）调查。长度超过100 kb的单例缺失（在数据集中仅出现一次的缺失）在16.2%的BD病例中存在，而对照组为12.3%（置换P = 0.007）。对于躁狂发作年龄≤18岁的情况，这种效应更为明显。我们的结果强烈表明，BD可能是由多种罕见结构变异的影响所致。
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