Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.
Joel RäsänenSami HeikkinenKiira MäklinAnssi LipponenTeemu KuulasmaaJuha MehtonenVille E KorhonenAntti JunkkariBenjamin Grenier-BoleyCeline BellenguezMinna OinasCecilia AvellanJanek FrantzénAnna KotkansaloJaakko RinneAntti RonkainenMikko KauppinenMikael von Und Zu FraunbergKimmo LönnrotJarno SatopääMarkus PerolaAnne M KoivistoValtteri JulkunenAnne M RemesArto MannermaaHilkka SoininenSeppo HelisalmiJuha E JääskeläinenJean-Charles LambertPer Kristian Eidenull nullAarno PalotieMitja I KurkiMikko HiltunenVille LeinonenPublished in: Neurology (2024)
We identified 6 loci significantly associated with NPH in the thus far largest GWAS in chronic hydrocephalus. The genes near the top loci have previously been associated with blood-brain barrier and blood-CSF barrier function and with increased lateral brain ventricle volume. The effect sizes and allele frequencies remained similar in NPH and iNPH cohorts, indicating the identified loci are risk determinants for iNPH and likely not explained by associations with other etiologies. However, the exact role of these loci is still unknown, warranting further studies.
Keyphrases
- genome wide association study
- blood brain barrier
- genome wide
- cerebral ischemia
- subarachnoid hemorrhage
- cerebrospinal fluid
- copy number
- genome wide association
- mitral valve
- pulmonary artery
- heart failure
- dna methylation
- multiple sclerosis
- congenital heart disease
- density functional theory
- atrial fibrillation
- functional connectivity
- left ventricular
- case control
- genome wide identification
- bioinformatics analysis