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Common genetic variants and gene expression associated with white matter microstructure in the human brain

Emma Sprooten, Emma E. Knowles, D. Reese McKay, Harald H. Göring, Joanne E. Curran, Jack W. Kent, Melanie A. Carless, Thomas D. Dyer, Eugene I. Drigalenko, Rene L. Olvera, Peter T. Fox, Laura Almasy (+4 others)
2014 NeuroImage  
white matter microstructure in health and disease.  ...  Identifying genes that contribute to white matter microstructure should provide insights into the neurobiological processes that regulate white matter development, plasticity and pathology.  ...  Acknowledgments Financial support for this study was provided by the National Insti-  ... 
doi:10.1016/j.neuroimage.2014.04.021 pmid:24736177 pmcid:PMC4107465 fatcat:3gspbzb2hjakfn5ai6bs63oru4

The comprehensive genetic architecture of brain white matter [article]

Bingxin Zhao, Tengfei Li, Yue Yang, Xifeng Wang, Tianyou Luo, Yue Shan, Ziliang Zhu, Di Xiong, Yun Li, Jason L Stein, Hongtu Zhu
2020 bioRxiv   pre-print
Hi-C coupled gene-based analysis identified a large number of pleiotropic genes associated with both white matter and the above complex traits.  ...  White matter keeps human brain globally connected and shapes communication and connectivity patterns among brain regions.  ...  Common genetic variants and gene expression associated with 5 white matter microstructure in the human brain.  ... 
doi:10.1101/2020.05.23.112409 fatcat:fc5dp3rjivcspdppaqkcwov5p4

How a common variant in the growth factor receptor gene,NTRK1, affects white matter

Meredith N. Braskie, Neda Jahanshad, Arthur W. Toga, Katie L. McMahon, Greig I. de Zubicaray, Nicholas G. Martin, Margaret J. Wright, Paul M. Thompson
2012 BioArchitecture  
carry the t allele variant in the growth factor gene, NTRK1 (at location rs6336), had lower white matter integrity than non-carriers on diffusion images of the brain.  ...  Our laboratory discovered that certain mental illness-associated genetic variants in BDNF, NTRK1, and NTRK3 are all related to diffusion tensor imaging (DTI) measures of white matter integrity in young  ...  differences in white matter microstructure (measured using DTI)  ... 
doi:10.4161/bioa.22190 pmid:22986407 pmcid:PMC3696063 fatcat:gcotdjke2ja47lob66gz6pd26e

PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure

Michel Belyk, Shelly Jo Kraft, Steven Brown
2014 Journal of Human Genetics  
This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism.  ...  However, the effect of variants of PlexinA on brain structure remains unclear.  ...  ACKNOWLEDGEMENTS Data collection and sharing for this project was funded by the Pediatric Imaging, Neurocognition and Genetics Study (PING) via the National  ... 
doi:10.1038/jhg.2014.107 pmid:25518740 pmcid:PMC5292032 fatcat:wdv32mthyvbpnftryducqdeuna

Identification of NCAN as a candidate gene for developmental dyslexia

Elisabet Einarsdottir, Myriam Peyrard-Janvid, Fahimeh Darki, Jetro J. Tuulari, Harri Merisaari, Linnea Karlsson, Noora M. Scheinin, Jani Saunavaara, Riitta Parkkola, Katri Kantojärvi, Antti-Jussi Ämmälä, Nancy Yiu-Lin Yu (+7 others)
2017 Scientific Reports  
In young adults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter volume in the left and right temporoparietal as well as the left inferior frontal brain regions  ...  The RNA expression pattern of the NCAN gene in human tissues was highly correlated (R > 0.8) with that of the previously suggested DD susceptibility genes KIAA0319, CTNND2, CNTNAP2 and GRIN2B.  ...  Acknowledgements The authors thank Jingwen Wang for help in bioinformatic analysis of sequence data, Ingegerd Fransson and Auli Saarinen for expert technical assistance, and Ripley Högnadóttir for critical  ... 
doi:10.1038/s41598-017-10175-7 pmid:28839234 pmcid:PMC5570950 fatcat:f7zblg2wgjcwfmroz3yrsthlja

Imaging-Genetics in Autism Spectrum Disorder: Advances, Translational Impact, and Future Directions

Stephanie H. Ameis, Peter Szatmari
2012 Frontiers in Psychiatry  
Longitudinal studies ideally focused on early development, in conjunction with investigation for gene-gene, and gene-environment interactions may move the promise of imaging-genetics in ASD closer to the  ...  Studies to date have indicated that relevant risk genes are associated with alterations in circuits that mediate socioemotional, visuo-spatial, and language processing.  ...  Ameis is supported by the Autism Research Training Program, funded by the Canadian Institutes of Health Research.  ... 
doi:10.3389/fpsyt.2012.00046 pmid:22615702 pmcid:PMC3351673 fatcat:blk5i35ynfedhc4nnbq5thxdpq

Differential effect of disease-associated ST8SIA2 haplotype on cerebral white matter diffusion properties in schizophrenia and healthy controls

Janice M. Fullerton, Paul Klauser, Rhoshel K. Lenroot, Alex D. Shaw, Bronwyn Overs, Anna Heath, Murray J. Cairns, Joshua Atkins, Rodney Scott, Peter R. Schofield, Cyndi Shannon Weickert, Christos Pantelis (+4 others)
2018 Translational Psychiatry  
Brain white matter abnormalities are evident in individuals with schizophrenia, and also their first-degree relatives, suggesting that some alterations may relate to underlying genetic risk.  ...  This study provides a link between a common disease-associated haplotype and specific changes in white matter microstructure, which may relate to resilience or risk for mental illness, providing further  ...  Publisher's note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.  ... 
doi:10.1038/s41398-017-0052-z pmid:29353880 pmcid:PMC5802561 fatcat:dw42gyrkojgp7mnt54e6mwhnou

Imaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

John D. Eicher, Jeffrey R. Gruen
2013 Molecular Genetics and Metabolism  
reveal novel risk genes and variants.  ...  Additionally, the lack of relevant human brain tissue for analysis and the challenges of modeling a uniquely human trait in animals are barriers to advancing our knowledge of the underlying pathophysiology  ...  Powers for thoughtful discussion and for editing the text.  ... 
doi:10.1016/j.ymgme.2013.07.001 pmid:23916419 pmcid:PMC3800223 fatcat:3eswog22prcpreh3xx3emutmq4

A potential association of RNF219-AS1 with ADHD: Evidence from categorical analysis of clinical phenotypes and from quantitative exploration of executive function and white matter microstructure endophenotypes

Guang-Hui Fu, Wai Chen, Hai-Mei Li, Yu-Feng Wang, Lu Liu, Qiu-Jin Qian
2021 CNS Neuroscience & Therapeutics  
and symptom dimension, (ii) executive functions as functional endophenotype, and (iii) potential genetic influence on white matter architecture as brain structural endophenotype.  ...  One SNP rs3908461 polymorphism in RNF219-AS1 was found to be significantly associated with ADHD caseness: with C-allele detected as the risk genotype in the allelic model (P = 8.607E-05) and dominant genotypic  ...  our present study further aimed to explore the possible genetic effects of the observed ADHD-related lncRNA variants on the altered white matter microstructure in children with ADHD.  ... 
doi:10.1111/cns.13629 pmid:33644999 fatcat:fblhmokts5d3hogozggffx7okq

Oligodendrocyte Genes, White Matter Tract Integrity, and Cognition in Schizophrenia

Aristotle N. Voineskos, Daniel Felsky, Natasa Kovacevic, Arun K. Tiwari, Clement Zai, M. Mallar Chakravarty, Nancy J. Lobaugh, Martha E. Shenton, Tarek K. Rajji, Dielle Miranda, Bruce G. Pollock, Benoit H. Mulsant (+2 others)
2012 Cerebral Cortex  
Oligodendrocyte genes and white matter tracts have been implicated in the pathophysiology of schizophrenia and may play an important etiopathogenic role in cognitive dysfunction in schizophrenia.  ...  , 2) oligodendrocyte gene variants influence white matter tract integrity and cognitive performance, and 3) effects of oligodendrocyte gene variants on cognitive performance are mediated via white matter  ...  A.N.V. had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.  ... 
doi:10.1093/cercor/bhs188 pmid:22772651 pmcid:PMC3729194 fatcat:fpasc7vbwbhy7lwwkzilrp5jwe

The SORL1 gene and convergent neural risk for Alzheimer's disease across the human lifespan

D Felsky, P Szeszko, L Yu, W G Honer, P L De Jager, J A Schneider, A K Malhotra, T Lencz, T Ikuta, J Pipitone, M M Chakravarty, N J Lobaugh (+5 others)
2013 Molecular Psychiatry  
Importantly, the effects of SORL1 variation on both white matter microstructure and gene expression were observed during neurodevelopmental phases of the human lifespan.  ...  and how (gene expression and neuropathology) Alzheimer's risk genes impact the brain.  ...  We are indebted to the participants in the Religious Orders Study and the Rush Memory and Aging Project. We thank the staff of the Rush Alzheimer's Disease Center.  ... 
doi:10.1038/mp.2013.142 pmid:24166411 pmcid:PMC4004725 fatcat:e3mdkj2r2bd4zoodu7g6txkv5y

New Technologies

2008 Hormone Research in Paediatrics  
GWA is a hypothesis-free approach that aims to identify unanticipated genetic loci associated with disease by testing hundreds of thousands of common variants.  ...  In addition to genetically modified animal models, cell cutlure models will be used. By application of siRNA, endogenous gene expression can be silence in primary cultures of human skeletal muscle.  ...  GWA is a hypothesis-free approach that aims to identify unanticipated genetic loci associated with disease by testing hundreds of thousands of common variants.  ... 
doi:10.1159/000157524 fatcat:umembbm7g5erppv5lnkm3il6ma

Polygenic Scores for Neuropsychiatric Traits and White Matter Microstructure in the Pediatric Population

Philip R. Jansen, Ryan L. Muetzel, Tinca J.C. Polderman, Vincent W. Jaddoe, Frank C. Verhulst, Aad van der Lugt, Henning Tiemeier, Danielle Posthuma, Tonya White
2018 Biological Psychiatry: Cognitive Neuroscience and Neuroimaging  
Here, we investigated the association between polygenic scores (PGSs) for seven neuropsychiatric traits and white matter microstructure of the brain on diffusion tensor imaging in the pediatric population  ...  CONCLUSIONS: Our results show that genetic predisposition for cognition-related traits, but not for psychiatric disorders, is associated with microstructural diffusion measures of white matter tracts at  ...  We thank all parents and children who participate in the Generation R Study and the investigators who were involved in data collection procedures.  ... 
doi:10.1016/j.bpsc.2018.07.010 pmid:30243642 fatcat:mj4tmefujzgfdpqgejumpmt3fi

Human Brain Volume: What's in the Genes# [chapter]

Jiska S. Peper, Marcel P. Zwiers, Dorret I. Boomsma, Reneacute S. Kahn, Hilleke E. Hulshoff Pol
2009 Handbook of Behavior Genetics  
Recently, the association of intelligence with frontal, occipital, and parahippocampal gray matter and connecting white matter was found to be influenced by genes common to brain structure and intelligence  ...  However, this finding does not necessarily mean that reductions in white matter results from genetic expression associated with brain morphology.  ... 
doi:10.1007/978-0-387-76727-7_10 fatcat:itgzh6kqe5bfdlwaqazwno3onm

Imaging genomics

Paul M Thompson, Nicholas G Martin, Margaret J Wright
2010 Current Opinion in Neurology  
Many studies measure single phenotypes from the images, such as hippocampal volume, but voxel-wise genomic methods can plot the profile of genetic association at each 3D point in the brain.  ...  Along with clinical diagnosis and cognitive testing, brain imaging offers highly reproducible measures that can be subjected to genetic analysis.  ...  Acknowledgements The authors are supported by NIH grant number RO1 HD050735 from the National Institute of Child Health and Human Development, USA, and Project Grant 496682 from the National Health and  ... 
doi:10.1097/wco.0b013e32833b764c pmid:20581684 pmcid:PMC2927195 fatcat:icgzn6yaqbasdj5t2mmcq53bwi
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