Genetic map of regional sulcal morphology in the human brain from UK biobank data-Reference-Cited by-同舟云学术

Genetic map of regional sulcal morphology in the human brain from UK biobank data

Published:2022-10-14 Issue:1 Volume:13 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Sun Benjamin B.^ORCID,Loomis Stephanie J.,Pizzagalli Fabrizio,Shatokhina Natalia,Painter Jodie N.^ORCID,Foley Christopher N.^ORCID,Sun Benjamin,Tsai Ellen,Bronson Paola,Sexton David,John Sally,Marshall Eric,Patel Mehool,Duraisamy Saranya,Swan Timothy,Baird Dennis,Chen Chia-Yen,Eaton Susan,Gagnon Jake,Gao Feng,Gubbels Cynthia,Huang Yunfeng,Kupelian Varant,Li Kejie,Liu Dawei,Loomis Stephanie,McLaughlin Helen,Mitchell Adele,Jensen Megan E.,McLaren Donald G.,Chintapalli Sai Spandana,Zhu Alyssa H.,Dixon Daniel,Islam Tasfiya,Ba Gari Iyad^ORCID,Runz Heiko^ORCID,Medland Sarah E.^ORCID,Thompson Paul M.,Jahanshad Neda,Whelan Christopher D.^ORCID,

Abstract

AbstractGenetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted large-scale genome- and exome-wide associations of regional cortical sulcal measures derived from magnetic resonance imaging scans of 40,169 individuals in UK Biobank. We discovered 388 regional brain folding associations across 77 genetic loci, with genes in associated loci enriched for expression in the cerebral cortex, neuronal development processes, and differential regulation during early brain development. We integrated brain eQTLs to refine genes for various loci, implicated several genes involved in neurodevelopmental disorders, and highlighted global genetic correlations with neuropsychiatric phenotypes. We provide an interactive 3D visualisation of our summary associations, emphasising added resolution of regional analyses. Our results offer new insights into the genetic architecture of brain folding and provide a resource for future studies of sulcal morphology in health and disease.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry,Multidisciplinary

Link

https://www.nature.com/articles/s41467-022-33829-1.pdf

Reference83 articles.

1. Hibar, D. P. et al. Common genetic variants influence human subcortical brain structures. Nature 520, 224–229 (2015).

2. Elliott, L. T. et al. Genome-wide association studies of brain imaging phenotypes in UK Biobank. Nature 562, 210–216 (2018).

3. Shen, L. & Thompson, P. M. Brain imaging genomics: integrated analysis and machine learning. Proc. IEEE Inst. Electr. Electron Eng. 108, 125–162 (2020).

4. Lee, P. H. et al. Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia. Mol. Psychiatry 21, 1680–1689 (2016).

5. Hofer, E. et al. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults. Nat. Commun. 11, 4796 (2020).

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Towards interpretable imaging genomics analysis: Methodological developments and applications;Information Fusion;2024-02

2. A bipolar taxonomy of adult human brain sulcal morphology related to timing of fetal sulcation and trans-sulcal gene expression gradients;2023-12-20

3. Neuroimaging genomics as a window into the evolution of human sulcal organization;2023-10-23

4. Better long-term learning ability is predicted by higher surface folding of the human premotor cortex;2023-08-21

5. The evolution of Big Data in neuroscience and neurology;Journal of Big Data;2023-07-10