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Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.

Joel Räsänen1, Sami Heikkinen1, Kiira Mäklin1

  • 1From the Department of Neurosurgery (J. Räsänen, K.M., V.E.K., M.O., J.E.J., V.L.), Kuopio University Hospital and Institute of Clinical Medicine-Neurosurgery, and Institute of Biomedicine (S. Heikkinen, K.M., A.L., T.K., M.H.), University of Eastern Finland, Kuopio; Institute for Molecular Medicine Finland (FIMM) (J.M., A.P.), Helsinki Institute of Life Science (HiLIFE), University of Helsinki; Department of Neurology (A.J.), Clinical Neurosciences, Helsinki University Hospital and University of Helsinki, Finland; Univ. Lille (B.G.-B., C.B., J.-C.L.), Inserm, CHU Lille, Institut Pasteur de Lille, U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, France; Department of Neurosurgery (M.O., K.L., J.S.), University of Helsinki and Helsinki University Hospital; Clinical Neurosciences (C.A., J.F., A.K., J. Rinne), Department of Neurosurgery, University of Turku and Turku University Hospital; Department of Neurosurgery (A.R.), Tampere University Hospital; Unit of Clinical Neuroscience (M.K., M.v.u.z.F.), Neurosurgery, University of Oulu and Medical Research Center, Oulu University Hospital; Finnish Institute for Health and Welfare (THL) (M.P.); University of Helsinki (M.P.); Department of Neurosciences (A.M.K., A.M.P.), University of Helsinki; Department of Geriatrics (A.M.K.), Helsinki University Hospital; NeuroCenter (A.M.K.), Kuopio University Hospital; Institute of Clinical Medicine-Neurology (V.J., H.S.), University of Eastern Finland; School of Medicine (A.M.), Institute of Clinical Medicine, Pathology and Forensic Medicine, and Translational Cancer Research Area, University of Eastern Finland; Department of Clinical Pathology (A.M.), Kuopio University Hospital; Unit of Clinical Medicine (S. Helisalmi), University of Eastern Finland, Kuopio, Finland; Department of Neurosurgery (P.K.E.), Oslo University Hospital-Rikshospitalet; Institute of Clinical Medicine (P.K.E.), Faculty of Medicine, and KG Jebsen Centre for Brain Fluid Research (P.K.E.), University of Oslo, Norway; Analytical and Translational Genetics Unit (A.P., M.I.K.), Department of Medicine, Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P., M.I.K.), and Stanley Center for Psychiatric Research (A.P., M.I.K.), Broad Institute for Harvard and MIT, Cambridge, MA.

Neurology
|August 14, 2024
PubMed
Summary
This summary is machine-generated.

This genome-wide association study identified six gene regions linked to normal pressure hydrocephalus (NPH). These findings in the largest GWAS for chronic hydrocephalus offer new insights into NPH etiology.

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Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Large-scale genome-wide association studies (GWAS) for chronic hydrocephalus have been limited.
  • Normal pressure hydrocephalus (NPH) is a neurological condition affecting gait, cognition, and urinary function.

Purpose of the Study:

  • To conduct the first large-scale genome-wide association study (GWAS) for normal pressure hydrocephalus (NPH).
  • To identify genetic loci associated with NPH and idiopathic NPH (iNPH).

Main Methods:

  • Utilized a case-control design with FinnGen data (473,691 individuals) and UK Biobank data for replication.
  • Identified NPH cases using ICD-10 code G91.2 and performed sensitivity analysis for idiopathic NPH (iNPH).

Main Results:

  • Identified 6 significant gene regions associated with NPH (p < 5.0e-8), replicated in a meta-analysis.
  • Top loci include genes near SLCO1A2, AMZ1/GNA12, MLLT10, CDCA2, C16orf95, and PLEKHG1.
  • Four loci remained significant in the iNPH sensitivity analysis, with similar effect sizes and allele frequencies.

Conclusions:

  • The study identified 6 loci significantly associated with NPH, representing the largest GWAS in chronic hydrocephalus to date.
  • Genes near these loci are implicated in blood-brain barrier and blood-cerebrospinal fluid barrier functions.
  • Identified loci are likely risk determinants for iNPH, though their exact role requires further investigation.