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NAT CENETl科学家发现了近1000种与智力相关的新基因

2018-07-03 佚名 中国生物技术网

近日,科学家们确定了1016种与智力相关的基因,其中939种基因对于科学来说是全新的。这些发现有助于确定认知功能的生物学基础,对于相关的神经和精神疾病的研究也非常重要。这项研究由荷兰阿姆斯特丹自由大学的统计遗传学家Danielle Posthuma教授领导,已于近日发表在《Nature Genetics》上

近日,科学家们确定了1016种与智力相关的基因,其中939种基因对于科学来说是全新的。这些发现有助于确定认知功能的生物学基础,对于相关的神经和精神疾病的研究也非常重要。这项研究由荷兰阿姆斯特丹自由大学的统计遗传学家Danielle Posthuma教授领导,已于近日发表在《Nature Genetics》上。

他们对大约270000名个体进行了全基因组关联研究(GWAS)。在这些研究中,科学家们分析了不同个体的全基因组遗传变异,以确定某些变异是否与特征相关。通常来说,GWAS研究寻找单核苷酸多态性(SNP)与主要人类疾病等性状之间的关联,但是也同样可以应用于任何其他生物体。

所有参与者都接受评估智力水平的神经认知测试,然后,研究人员将他们的智力分数与DNA中的变种(即SNP)进行比较。对于确定哪些突变与高智力相关来说,这是一种非常直接的识别方法。

在这个巨大的样本库中含有超过900万种突变,研究人员发现了205个与智力相关的DNA区域,其中190个区域对于科学家来说是全新的,他们还发现了1016个特定基因,其中只有77个在过去被发现过。

这些与高智力相关的突变似乎能够保护整体认知健康,携带这些突变的人不太可能患阿尔兹海默症、注意缺陷多动障碍(ADHD)、抑郁症和精神分裂症。而不利的方面是,这些高智力基因突变与自闭症的风险增高相关。智力高的人通常寿命也更长。

Posthuma和同事们曾经在一项有8万人参与的研究中确定了40种与智力相关的新基因。这次,他们取得的成果远远超过了上次。

该研究使用一种名为MAGMA的新型统计方法来确定特定类型的细胞和组织的基因表达。很多基因都在一个名为基底神经节的大脑区域中表达,基底神经节是一簇神经元,与学习、认知和情绪相关。这表明,这个大脑区域很可能成为新药物的靶标,用于预防或治疗精神类疾病。

在另一项发表在《Nature Genetics》上的研究中,研究人员通过梳理英国生物银行和23andMe的449,400名个体数据库,确定了近500个基因和124个与神经质特征相关的基因座(DNA区域)。神经质特征包括焦虑和抑郁。

这项研究表明,焦虑的人与容易抑郁的人继承了不同的遗传基因,这说明导致这两种症状的遗传通路是不同的。

这两项研究都非常引人注目,因为它们为揭示神经质的神经生物学原理提供了新的方向,还为严重精神疾病提供了新的线索。

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    2019-02-20 liye789132251
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    2019-03-05 canlab
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    2018-07-03 wxl882001

    了解一下

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Cell:科学家揭示端粒酶内部工作机制,在癌症、衰老中扮演重要角色

为四膜虫结合端粒DNA的端粒酶的结构提供了机制上的新认知;关于其催化核心的完整结构揭示了一个叫做TRAP的新的结构单元;揭示了DNA从活性位点到端粒DNA结合p50-TEB复合物的详细途径;揭示了端粒酶RNA TRE模板-TBE在端粒DNA合成过程中的作用。

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