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摘要 : 德国波恩大学等处的一个国际研究组在一项全基因组关联研究中,发现双向情感障碍(躁郁症)的两个新的遗传风险变异体。这项研究让我们对这种疾病的遗传基础有了进一步认识。相关文章发表于2014年3月11日的《Nature Communications》杂志上。


德国波恩大学等处的一个国际研究组在一项全基因组关联研究中,发现双向情感障碍(躁郁症)的两个新的遗传风险变异体。这项研究让我们对这种疾病的遗传基础有了进一步认识。相关文章发表于2014年3月11日的《Nature Communications》杂志上。

在对超过24000人所做的一项全基因组关联研究中,可能会增加患双向情感障碍(躁郁症)风险的两个新的遗传风险变异体被发现。发表在本期Nature Communications上的这项研究让我们对这种疾病的遗传基础有了进一步认识。


在对双向情感障碍所做的这项迄今规模最大的研究中,Sven Cichon及同事识别出双向情感障碍的两个新的遗传风险变异体,还确认了三个以前所报告的基因关联。



Genome-wide association study reveals two new risk loci for bipolar disorder

Thomas W. Mühleisen, Markus Leber, Thomas G. Schulze, Jana Strohmaier, Franziska Degenhardt, Jens Treutlein, Manuel Mattheisen, Andreas J. Forstner, Johannes Schumacher, René Breuer, Sandra Meier, Stefan Herms, Per Hoffmann, André Lacour,Stephanie H. Witt, Andreas Reif, Bertram Müller-Myhsok, Susanne Lucae, Wolfgang Maier,Markus Schwarz et al.

Bipolar disorder (BD) is a common and highly heritable mental illness and genome-wide association studies (GWAS) have robustly identified the first common genetic variants involved in disease aetiology. The data also provide strong evidence for the presence of multiple additional risk loci, each contributing a relatively small effect to BD susceptibility. Large samples are necessary to detect these risk loci. Here we present results from the largest BD GWAS to date by investigating 2.3 million single-nucleotide polymorphisms (SNPs) in a sample of 24,025 patients and controls. We detect 56 genome-wide significant SNPs in five chromosomal regions including previously reported risk loci ANK3, ODZ4 and TRANK1, as well as the risk locus ADCY2 (5p15.31) and a region between MIR2113 and POU3F2 (6q16.1). ADCY2 is a key enzyme in cAMP signalling and our finding provides new insights into the biological mechanisms involved in the development of BD.

来源: Nature Communications 浏览次数:32


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