Mitochondrial DNA haplogroup variation in hydrocephalus
Munch, T. N.; Hedley, P. L.; Hagen, C. M.; Elson, J.; Baekvad-Hansen, M.; Geller, F.; Bybjerg-Grauholm, J.; Nordentoft, M.; Boerglum, A.; Mortensen, P. B.; Werge, T.; Melbye, M.; Hougaard, D. M.; Christiansen, M.
Show abstract
Hydrocephalus is a genetically and phenotypically heterogenous condition with complex etiology. Ciliary dysfunction has been shown to play a role, either through interference with signaling functions in primary cilia, cerebrospinal fluid flow by motile cilia, or both. Ciliary function is highly energy-dependent, consequently, variation in mitochondrial OXPHOS function might be a susceptibility factor for hydrocephalus. Furthermore, familial hydrocephalus exhibits preferential maternal inheritance. Mitochondrial DNA (mtDNA) haplogroups, have been associated with different characteristics of OXPHOS function as well as susceptibility to autism spectrum disorders, a frequent co-morbidity of hydrocephalus. This nested case-cohort study, a substudy of the iPSYCH study, used mtDNA data from 191 hydrocephalus cases and 24,831 population controls and found no association between hydrocephalus and any mtDNA haplogroup. Likewise, the distribution of European macro-haplogroups, HV, JT, and UK, did not differ between 172 hydrocephalus cases and 21,850 population controls. Thus, mtDNA haplogroups are not susceptibility factors for hydrocephalus.
Matching journals
The top 10 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
- The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement 93%
- The wide spectrum of neuropsychiatric complications in Covid-19 patients within a multidisciplinary hospital context 91%
- The PREVENT Dementia programme: Baseline demographic, lifestyle, imaging and cognitive data from a midlife cohort study investigating risk factors for dementia 90%
Similar papers in this journal
- A novel co-segregating DCTN1 splice site variant in a family with Bipolar Disorder may hold the key to understanding the etiology 93%
- Exploring the impact of mitonuclear discordance on disease in Latin American admixed populations 91%
- Fish as model systems to study epigenetic drivers in human self-domestication and neurodevelopmental cognitive disorders 90%
Similar papers in this journal
- Molecular genetics of GLUT1DS Italian pediatric cohort: 10 novel related-disease variants and structural analysis 92%
- LEF1-AS1 deregulation in the peripheral blood of patients with persistent post-COVID symptoms 90%
- Convergent mutations and single nucleotide variants in mitochondrial genomes of modern humans and Neanderthals 89%
Similar papers in this journal
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.