Brain imaging traits and epilepsy: Unraveling causal links via mendelian randomization Article Swipe
Fangyan Li
,
Maowen Tang
,
Cheng Hao
,
Menghua Yang
,
Yue Pan
,
Pinggui Lei
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/brb3.70051
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/brb3.70051
Background Epilepsy, a complex neurological disorder, is closely linked with structural and functional irregularities in the brain. However, the causal relationship between brain imaging‐derived phenotypes (IDPs) and epilepsy remains unclear. This study aimed to investigate this relationship by employing a two‐sample bidirectional Mendelian randomization (MR) approach. Methods The analysis involved 3935 cerebral IDPs from the UK Biobank and all documented cases of epilepsy (all epilepsies) cohorts from the International League Against Epilepsy, with further validation through replication and meta‐analyses using epilepsy Genome‐Wide Association Studies datasets from the FinnGen database. Additionally, a multivariate MR analysis framework was utilized to assess the direct impact of IDPs on all epilepsies. Furthermore, we performed a bidirectional MR analysis to investigate the relationship between the IDPs identified in all epilepsies and the 15 specific subtypes of epilepsy. Results The study identified significant causal links between four IDPs and epilepsy risk. Decreased fractional anisotropy in the left inferior longitudinal fasciculus was associated with a higher risk of epilepsy (odds ratio [OR]: 0.89, p = 3.31×10 −5 ). Conversely, increased mean L1 in the left posterior thalamic radiation (PTR) was independently associated with a heightened epilepsy risk (OR: 1.14, p = 4.72×10 −5 ). Elevated L3 in the left cingulate gyrus was also linked to an increased risk (OR: 1.09, p = .03), while decreased intracellular volume fraction in the corpus callosum was correlated with higher epilepsy risk (OR: 0.94, p = 1.15×10 −4 ). Subtype analysis revealed that three of these IDPs are primarily associated with focal epilepsy (FE). Notably, increased L1 in the left PTR was linked to an elevated risk of hippocampal sclerosis (HS) and lesion‐negative FE, whereas elevated L3 in the left cingulate gyrus was associated with HS‐related FE. Conclusions Our research offers genetic evidence for a causal link between brain IDPs and epilepsy. These results enhance our understanding of the structural brain changes associated with the onset and progression of epilepsy.
Related Topics
Concepts
Epilepsy
Mendelian randomization
Corpus callosum
Medicine
Fractional anisotropy
Diffusion MRI
Neuroscience
Psychology
Psychiatry
Genetics
Biology
Magnetic resonance imaging
Genotype
Radiology
Gene
Genetic variants
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/brb3.70051
- OA Status
- gold
- Cited By
- 4
- References
- 56
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4403044221
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4403044221Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/brb3.70051Digital Object Identifier
- Title
-
Brain imaging traits and epilepsy: Unraveling causal links via mendelian randomizationWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
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2024Year of publication
- Publication date
-
2024-09-30Full publication date if available
- Authors
-
Fangyan Li, Maowen Tang, Cheng Hao, Menghua Yang, Yue Pan, Pinggui LeiList of authors in order
- Landing page
-
https://doi.org/10.1002/brb3.70051Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1002/brb3.70051Direct OA link when available
- Concepts
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Epilepsy, Mendelian randomization, Corpus callosum, Medicine, Fractional anisotropy, Diffusion MRI, Neuroscience, Psychology, Psychiatry, Genetics, Biology, Magnetic resonance imaging, Genotype, Radiology, Gene, Genetic variantsTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2025: 2, 2024: 2Per-year citation counts (last 5 years)
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56Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.3.31×10 | 169 |
| abstract_inverted_index.4.72×10 | 195 |
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| abstract_inverted_index.Epilepsy, | 2, 72 |
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| countries_distinct_count | 1 |
| institutions_distinct_count | 6 |
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