Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.,Nature Genetics

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Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits.
Nature Genetics ( IF 31.7 ) Pub Date : 2019-11-01 , DOI: 10.1038/s41588-019-0516-6
Bingxin Zhao ₁ , Tianyou Luo ₁ , Tengfei Li _{2,

3} , Yun Li _{1,

4,

5} , Jingwen Zhang ₆ , Yue Shan ₁ , Xifeng Wang ₁ , Liuqing Yang ₇ , Fan Zhou ₁ , Ziliang Zhu ₁ , , , Hongtu Zhu _{1,

3}

Affiliation

Volumetric variations of the human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank sample including 19,629 participants. GWAS identified 365 independent genetic variants exceeding a significance threshold of 4.9 × 10-10, adjusted for testing multiple phenotypes. A gene-based association study found 157 associated genes (124 new), and functional gene mapping analysis linked 146 additional genes. Many of the discovered genetic variants and genes have previously been implicated in cognitive and mental health traits. Through genome-wide polygenic-risk-score prediction, more than 6% of the phenotypic variance (P = 3.13 × 10-24) in four other independent studies could be explained by the UK Biobank GWAS results. In conclusion, our study identifies many new genetic associations at the variant, locus and gene levels and advances our understanding of the pleiotropy and genetic co-architecture between brain volumes and other traits.

中文翻译：

对 19,629 名个体进行全基因组关联分析，识别出影响区域脑容量的变异，并通过认知和心理健康特征完善其遗传协同架构。

人脑的体积变化是可遗传的，并且与许多与大脑相关的复杂特征有关。在这里，我们使用英国生物银行样本（包括 19,629 名参与者）对 101 个大脑体积表型进行了全基因组关联研究 (GWAS)。 GWAS 鉴定了 365 个独立的遗传变异，超过了 4.9 × 10-10 的显着性阈值，并针对测试多种表型进行了调整。一项基于基因的关联研究发现了 157 个相关基因（124 个新基因），功能基因图谱分析又发现了 146 个其他基因。许多发现的遗传变异和基因以前都与认知和心理健康特征有关。通过全基因组多基因风险评分预测，其他四项独立研究中超过 6% 的表型方差 (P = 3.13 × 10-24) 可以用英国生物银行 GWAS 结果来解释。总之，我们的研究在变异、基因座和基因水平上确定了许多新的遗传关联，并增进了我们对脑容量和其他性状之间的多效性和遗传协同结构的理解。

更新日期：2019-11-01

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