A genome-wide association study identifies genetic loci associated with specific lobar brain volumes
| العنوان: | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
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| المؤلفون: | Diana van Heemst, Lisa R. Yanek, Tamara B. Harris, Fabrice Crivello, Hieab H.H. Adams, Paul A. Nyquist, Bernard Mazoyer, Najaf Amin, Pauline Maillard, Diane M. Becker, Marian Beekman, Shuo Li, Ganesh Chauhan, Charles DeCarli, Wanting Zhao, Neda Jahanshad, Rasika A. Mathias, Cornelia M. van Duijn, Manon Bernard, Derrek P. Hibar, Alexa S. Beiser, Meike W. Vernooij, Vilmundur Gudnason, Joshua C. Bis, Tomáš Paus, Edith Hofer, Lei Yu, Stéphanie Debette, Helena Schmidt, M. Kamran Ikram, P. Eline Slagboom, Erik B. van den Akker, Lenore J. Launer, Stefan Boehringer, Kent D. Taylor, Maria J. Knol, Wiro J. Niessen, Kenneth Rice, Zdenka Pausova, Gennady V. Roshchupkin, Sven J. van der Lee, Philip L. De Jager, Ching-Yu Cheng, Sudha Seshadri, Qiong Yang, Konstantinos Arfanakis, Yasaman Saba, Jeroen van der Grond, W. T. Longstreth, Albert V. Smith, Claudia L. Satizabal, Oscar L. Lopez, Bruce M. Psaty, Christopher Chen, Philippe Amouyel, Josh W. Cheung, M. Arfan Ikram, Tien Yin Wong, Reinhold Schmidt, David A. Bennett, Saima Hilal, Paul M. Thompson |
| المساهمون: | Erasmus University Medical Center [Rotterdam] (Erasmus MC), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medicine, University of Washington [Seattle], Keck School of Medicine [Los Angeles], University of Southern California (USC), National University of Singapore (NUS), Rush University Medical Center [Chicago], Groupe d'imagerie neurofonctionnelle (GIN), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Los Angeles Biomedical Research Institute (LA BioMed), School of Public Health [Boston], Boston University [Boston] (BU), Columbia University Medical Center (CUMC), Columbia University [New York], University of Glasgow, Leiden University Medical Center (LUMC), University of Texas Health Science Center, The University of Texas Health Science Center at Houston (UTHealth), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidemiology, Radiology & Nuclear Medicine, Medical Informatics, Neurology, Clinical Genetics, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland, [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Universiteit Leiden |
| المصدر: | Communications Biology Communications Biology, Nature Publishing Group, 2019, 2, pp.285. ⟨10.1038/s42003-019-0537-9⟩ Communications Biology, 2 Communications Biology, 2(1) Communications Biology, Vol 2, Iss 1, Pp 1-9 (2019) Communications Biology, 2:Unsp 285. Springer Nature Communications Biology, 2019, 2, pp.285. ⟨10.1038/s42003-019-0537-9⟩ Communications biology, vol 2, iss 1 |
| بيانات النشر: | Springer Science and Business Media LLC, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pathology, Heredity, Neurology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Medicine (miscellaneous), Genome-wide association study, Genome-wide association studies, Taugasjúkdómar, 0302 clinical medicine, Parietal Lobe, 2.1 Biological and endogenous factors, Developmental, Aetiology, lcsh:QH301-705.5, 0303 health sciences, Parietal lobe, Gene Expression Regulation, Developmental, Organ Size, Magnetic Resonance Imaging, Temporal Lobe, Frontal Lobe, 3. Good health, Phenotype, Mental Health, Neurological, symbols, Occipital Lobe, Erfðarannsóknir, General Agricultural and Biological Sciences, medicine.medical_specialty, Genotype, 1.1 Normal biological development and functioning, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Temporal lobe, 03 medical and health sciences, symbols.namesake, Underpinning research, Genetics, medicine, Humans, Gene, 030304 developmental biology, Genetic association, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Human Genome, Heilinn, Neurosciences, Genetic Variation, United Kingdom, Brain Disorders, Gene Expression Regulation, lcsh:Biology (General), Genetic Loci, Mendelian inheritance, Occipital lobe, Biomarkers, 030217 neurology & neurosurgery, Genome-Wide Association Study |
| الوصف: | Publisher's version (útgefin grein). Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes. 23Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD 20892, USA. 24Research Unit-Genetic Epidemiology, Gottfried Schatz Research Centre for Cell Signaling, Metabolism and Aging, Molecular Biology and Biochemistry, Medical University of Graz, 8010 Graz, Austria. 25Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15260, USA. 26Department of Biostatistics, School of Public Health, Boston University, Boston, MA 02118, USA. 27Department of Radiology, Leiden University Medical Center, Leiden 2333ZA, the Netherlands. 28Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto M4G 1R8, Canada. 29Departments of Psychology and Psychiatry, University of Toronto, Toronto M5S 1A1, Canada. |
| وصف الملف: | application/pdf |
| تدمد: | 2399-3642 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c69992585c1ddda2f98f0e7cffc1dfTest https://doi.org/10.1038/s42003-019-0537-9Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....64c69992585c1ddda2f98f0e7cffc1df |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 23993642 |
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