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Christensen Mette W. Keefe David L. Wang Fang Hansen Christine S. Chamani Isaac J. Sommer Carolyn Nyegaard Mette Rohde Palle D. Nielsen Anders L. Bybjerg-Grauholm Jonas Kesmodel Ulrik S. Knudsen Ulla B. Kirkegaard Kirstine Ingerslev Hans Jakob 《Journal of assisted reproduction and genetics》2021,38(11):3027-3038
Journal of Assisted Reproduction and Genetics - To evaluate whether young women with idiopathic early ovarian aging, as defined by producing fewer oocytes than expected for a given age over... 相似文献
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Vanessa F. Gonçalves Carolina Cappi Christian M. Hagen Adolfo Sequeira Marquis P. Vawter Andriy Derkach Clement C. Zai Paula L. Hedley Jonas Bybjerg-Grauholm Jennie G. Pouget Ari B. Cuperfain Patrick F. Sullivan Michael Christiansen James L. Kennedy Lei Sun 《Neuropsychopharmacology》2018,83(9):780-789
Background
The genetic risk factors of schizophrenia (SCZ), a severe psychiatric disorder, are not yet fully understood. Multiple lines of evidence suggest that mitochondrial dysfunction may play a role in SCZ, but comprehensive association studies are lacking. We hypothesized that variants in nuclear-encoded mitochondrial genes influence susceptibility to SCZ.Methods
We conducted gene-based and gene-set analyses using summary association results from the Psychiatric Genomics Consortium Schizophrenia Phase 2 (PGC-SCZ2) genome-wide association study comprising 35,476 cases and 46,839 control subjects. We applied the MAGMA method to three sets of nuclear-encoded mitochondrial genes: oxidative phosphorylation genes, other nuclear-encoded mitochondrial genes, and genes involved in nucleus-mitochondria crosstalk. Furthermore, we conducted a replication study using the iPSYCH SCZ sample of 2290 cases and 21,621 control subjects.Results
In the PGC-SCZ2 sample, 1186 mitochondrial genes were analyzed, among which 159 had p values < .05 and 19 remained significant after multiple testing correction. A meta-analysis of 818 genes combining the PGC-SCZ2 and iPSYCH samples resulted in 104 nominally significant and nine significant genes, suggesting a polygenic model for the nuclear-encoded mitochondrial genes. Gene-set analysis, however, did not show significant results. In an in silico protein-protein interaction network analysis, 14 mitochondrial genes interacted directly with 158 SCZ risk genes identified in PGC-SCZ2 (permutation p = .02), and aldosterone signaling in epithelial cells and mitochondrial dysfunction pathways appeared to be overrepresented in this network of mitochondrial and SCZ risk genes.Conclusions
This study provides evidence that specific aspects of mitochondrial function may play a role in SCZ, but we did not observe its broad involvement even using a large sample. 相似文献3.
Ron Nudel Michael E. Benros Morten Dybdahl Krebs Rosa Lundbye Allese Camilla Koldbk Lemvigh Jonas Bybjerg-Grauholm Anders D. Brglum Mark J. Daly Merete Nordentoft Ole Mors David M. Hougaard Preben Bo Mortensen Alfonso Buil Thomas Werge Simon Rasmussen Wesley K. Thompson 《European journal of human genetics : EJHG》2021,29(8):1316
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Dahlin Anna M. Wibom Carl Andersson Ulrika Bybjerg-Grauholm Jonas Deltour Isabelle Hougaard David M. Scheurer Michael E. Lau Ching C. McKean-Cowdin Roberta Kennedy Rebekah J. Hung Long T. Yee Janis Margol Ashley S. Barrington-Trimis Jessica Gauderman W. James Feychting Maria Schüz Joachim Röösli Martin Kjaerheim Kristina Januszkiewicz-Lewandowska Danuta Fichna Marta Nowak Jerzy Searles Nielsen Susan Asgharzadeh Shahab Mirabello Lisa Hjalmars Ulf Melin Beatrice 《Journal of neuro-oncology》2020,147(2):309-315
Journal of Neuro-Oncology - Medulloblastoma is a malignant embryonal tumor of the cerebellum that occurs predominantly in children. To find germline genetic variants associated with medulloblastoma... 相似文献
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