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Integration of human genetics and mutli-omics data implicates novel pathways in hydrocephalus


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Integration of human genetics and mutli-omics data implicates novel pathways in hydrocephalus

Andrew T. Hale1, Lisa Bastarache2, Diego M. Morales3, John C. Wellons III4, David D. Limbrick Jr.3, Steven J. Schiff,5 Eric R. Gamazon6,7

1Medical Scientist Training Program and 2Department of Bioinformatics, Vanderbilt University School of Medicine; 3Department of Neurological Surgery, St. Louis Children’s Hospital; 4Division of Pediatric Neurosurgery, Monroe Carell Jr. Children’s Hospital of Vanderbilt University; 5Center for Neural Engineering, Departments of Neurosurgery, Engineering Science and Mechanics, and Physics, Penn State University; 6Division of Genetic Medicine, Vanderbilt University Medical Center; 7Clare Hall, University of Cambridge.

Hydrocephalus is a component of ~200 genetic syndromes and a secondary consequence of many pathologies (infection, hemorrhage, etc.). Recent studies have suggested that hydrocephalus is caused, at least in part, by abnormal neurogenesis which may lead to alterations in white matter and total brain volume. Using PrediXcan (Gamazon et al. Nature Genetics 2018), we conducted a GWAS to identify genes associated with pediatric hydrocephalus in BioVU (287 cases and 18,740 controls). We identify maelstrom (MAEL), a gene involved in DNA transposon and epigenetic regulation, as a genome-wide predictor of hydrocephalus. We then used PrediXcan to identify genes associated with white matter and total brain volumes using MRI data from 8,428 individuals in the UK Biobank (controlling for age, sex, and genetic ancestry using 40 principal components). MAEL expression is associated with decreased white matter and total brain volumes (Bonferroni-adjusted pxtagstartz 0.05), suggesting that

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