ArticlePloS one2020
Genome wide association study of incomplete hippocampal inversion in adolescents.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Minor Physical Anomalies and Congenital Malformations Among Children with Psychotic Symptoms: An Exploratory Descriptive Study with Illustrative Clinical Cases.Brain sciences · 2026Article
- Automatic rating of incomplete hippocampal inversions evaluated across multiple cohorts.ArXiv · 2025Article
- Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion.Molecular syndromology · 2024Article
- ComBat Harmonization: Empirical Bayes versus fully Bayes approaches.NeuroImage. Clinical · 2023Article
- Structural and Functional Deviations of the Hippocampus in Schizophrenia and Schizophrenia Animal Models.International journal of molecular sciences · 2022Review
- Scan Once, Analyse Many: Using Large Open-Access Neuroimaging Datasets to Understand the Brain.Neuroinformatics · 2022Article
- Hippocampal Malrotation Could Be Less Significant in Epilepsy Caused by Focal Cortical Dysplasia Type I and Type II.Frontiers in neurology · 2022Article
- Incomplete hippocampal inversion in schizophrenia: prevalence, severity, and impact on hippocampal structure.Molecular psychiatry · 2021Article
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Authors and funding
16 authors.
Funding
Abstract
Incomplete hippocampal inversion (IHI), also called hippocampal malrotation, is an atypical presentation of the hippocampus present in about 20% of healthy individuals. Here we conducted the first genome-wide association study (GWAS) in IHI to elucidate the genetic underpinnings that may contribute to the incomplete inversion during brain development. A total of 1381 subjects contributed to the discovery cohort obtained from the IMAGEN database. The incidence rate of IHI was 26.1%. Loci with P<1e-5 were followed up in a validation cohort comprising 161 subjects from the PING study. Summary statistics from the discovery cohort were used to compute IHI heritability as well as genetic correlations with other traits. A locus on 18q11.2 (rs9952569; OR = 1.999; Z = 5.502; P = 3.755e-8) showed a significant association with the presence of IHI. A functional annotation of the locus implicated genes AQP4 and KCTD1. However, neither this locus nor the other 16 suggestive loci reached a significant p-value in the validation cohort. The h2 estimate was 0.54 (sd: 0.30) and was significant (Z = 1.8; P = 0.036). The top three genetic correlations of IHI were with traits representing either intelligence or education attainment and reached nominal P< = 0.013.
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Registered trials
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