| Title: | Common genetic variation influencing human white matter microstructure |
| Journal: | Science |
| Published: | 18 Jun 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34140357/ |
| DOI: | https://doi.org/10.1126/science.abf3736 |
| URL: | https://pure.au.dk/portal/en/publications/5508dbc6-35a5-4a53-a41a-f61dbc4ecabd |
| Citations: | 126 (74 in last 2 years) as of 8 Aug 2024 |
Publication 7460
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Abstract
Brain regions communicate with each other through tracts of myelinated axons, commonly referred to as white matter. We identified common genetic variants influencing white matter microstructure using diffusion magnetic resonance imaging of 43,802 individuals. Genome-wide association analysis identified 109 associated loci, 30 of which were detected by tract-specific functional principal components analysis. A number of loci colocalized with brain diseases, such as glioma and stroke. Genetic correlations were observed between white matter microstructure and 57 complex traits and diseases. Common variants associated with white matter microstructure altered the function of regulatory elements in glial cells, particularly oligodendrocytes. This large-scale tract-specific study advances the understanding of the genetic architecture of white matter and its genetic links to a wide spectrum of clinical outcomes.</p>
21 Keywords
- Brain
- Brain Diseases
- Cognition
- Diffusion Magnetic Resonance Imaging
- Diffusion Tensor Imaging
- Female
- Genetic Variation
- Genome, Human
- Genome-Wide Association Study
- Heart Disease Risk Factors
- Humans
- Male
- Mental Disorders
- Multifactorial Inheritance
- Neural Pathways
- Neuroglia
- Neurons
- Principal Component Analysis
- Quantitative Trait Loci
- Risk Factors
- White Matter
15 Authors
- Bingxin Zhao
- Tengfei Li
- Yue Yang
- Xifeng Wang
- Tianyou Luo
- Yue Shan
- Ziliang Zhu
- Di Xiong
- Mads E Hauberg
- Jaroslav Bendl
- John F Fullard
- Panagiotis Roussos
- Yun Li
- Jason L Stein
- Hongtu Zhu
1 Application
| Application ID | Title |
|---|---|
| 22783 | The joint analysis of imaging data and genetic data for early tumor detection, prevention, diagnosis and treatment |
Enabling scientific discoveries that improve human health