☆ 4.5 Article

Imaging genomics

CURRENT OPINION IN NEUROLOGY (2010)

期刊

CURRENT OPINION IN NEUROLOGY

卷 23, 期 4, 页码 368-373

出版社

LIPPINCOTT WILLIAMS & WILKINS

DOI: 10.1097/WCO.0b013e32833b764c

关键词

diffusion imaging; genome-wide association study; heritability; MRI; twins

类别

Clinical Neurology Neurosciences

资金

NIH, National Institute of Child Health and Human Development, USA [RO1 HD050735]
National Health and Medical Research Council, Australia [496682]
NIH [EB008432, EB008281, EB007813, AG036535, RR021813, RR013642]

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摘要

Purpose of review Imaging genomics is an emerging field that is rapidly identifying genes that influence the brain, cognition, and risk for disease. Worldwide, thousands of individuals are being scanned with high-throughput genotyping (genome-wide scans), and new imaging techniques [high angular resolution diffusion imaging and resting state functional magnetic resonance imaging (MRI)] that provide fine-grained measures of the brain's structural and functional connectivity. Along with clinical diagnosis and cognitive testing, brain imaging offers highly reproducible measures that can be subjected to genetic analysis. Recent findings Recent studies of twin, pedigree, and population-based datasets have discovered several candidate genes that consistently show small to moderate effects on brain measures. 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. This exploits the full arsenal of imaging statistics to discover and replicate gene effects. Summary Imaging genomics efforts worldwide are now working together to discover and replicate many promising leads. By studying brain phenotypes closer to causative gene action, larger gene effects are detectable with realistic sample sizes obtainable from meta-analysis of smaller studies. Imaging genomics has broad applications to dementia, mental illness, and public health.

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Article Neurosciences

Cortical thickness across the lifespan: Data from 17,075 healthy individuals aged 3-90 years

Sophia Frangou, Amirhossein Modabbernia, Steven C. R. Williams, Efstathios Papachristou, Gaelle E. Doucet, Ingrid Agartz, Moji Aghajani, Theophilus N. Akudjedu, Anton Albajes-Eizagirre, Dag Alnaes, Kathryn Alpert, Micael Andersson, Nancy C. Andreasen, Ole A. Andreassen, Philip Asherson, Tobias Banaschewski, Nuria Bargallo, Sarah Baumeister, Ramona Baur-Streubel, Alessandro Bertolino, Aurora Bonvino, Dorret Boomsma, Stefan Borgwardt, Josiane Bourque, Daniel Brandeis, Alan Breier, Henry Brodaty, Rachel M. Brouwer, Jan K. Buitelaar, Geraldo F. Busatto, Randy L. Buckner, Vincent Calhoun, Erick J. Canales-Rodriguez, Dara M. Cannon, Xavier Caseras, Francisco X. Castellanos, Simon Cervenka, Tiffany M. Chaim-Avancini, Christopher R. K. Ching, Victoria Chubar, Vincent P. Clark, Patricia Conrod, Annette Conzelmann, Benedicto Crespo-Facorro, Fabrice Crivello, Eveline A. Crone, Anders M. Dale, Christopher Davey, Eco J. C. de Geus, Lieuwe de Haan, Greig de Zubicaray, Anouk den Braber, Erin W. Dickie, Annabella Di Giorgio, Nhat Trung Doan, Erlend S. Dorum, Stefan Ehrlich, Susanne Erk, Thomas Espeseth, Helena Fatouros-Bergman, Simon E. Fisher, Jean-Paul Fouche, Barbara Franke, Thomas Frodl, Paola Fuentes-Claramonte, David C. Glahn, Ian H. Gotlib, Hans-Joergen Grabe, Oliver Grimm, Nynke A. Groenewold, Dominik Grotegerd, Oliver Gruber, Patricia Gruner, Rachel E. Gur, Ruben C. Gur, Ben J. Harrison, Catharine A. Hartman, Sean N. Hatton, Andreas Heinz, Dirk J. Heslenfeld, Derrek P. Hibar, Ian B. Hickie, Beng-Choon Ho, Pieter J. Hoekstra, Sarah Hohmann, Avram J. Holmes, Martine Hoogman, Norbert Hosten, Fleur M. Howells, Hilleke E. Hulshoff Pol, Chaim Huyser, Neda Jahanshad, Anthony James, Terry L. Jernigan, Jiyang Jiang, Erik G. Jonsson, John A. Joska, Rene Kahn, Andrew Kalnin, Ryota Kanai, Marieke Klein, Tatyana P. Klyushnik, Laura Koenders, Sanne Koops, Bernd Kraemer, Jonna Kuntsi, Jim Lagopoulos, Luisa Lazaro, Irina Lebedeva, Won Hee Lee, Klaus-Peter Lesch, Christine Lochner, Marise W. J. Machielsen, Sophie Maingault, Nicholas G. Martin, Ignacio Martinez-Zalacain, David Mataix-Cols, Bernard Mazoyer, Colm McDonald, Brenna C. McDonald, Andrew M. McIntosh, Katie L. McMahon, Genevieve McPhilemy, Jose M. Menchon, Sarah E. Medland, Andreas Meyer-Lindenberg, Jilly Naaijen, Pablo Najt, Tomohiro Nakao, Jan E. Nordvik, Lars Nyberg, Jaap Oosterlaan, Victor Ortiz-Garcia de la Foz, Yannis Paloyelis, Paul Pauli, Giulio Pergola, Edith Pomarol-Clotet, Maria J. Portella, Steven G. Potkin, Joaquim Radua, Andreas Reif, Daniel A. Rinker, Joshua L. Roffman, Pedro G. P. Rosa, Matthew D. Sacchet, Perminder S. Sachdev, Raymond Salvador, Pascual Sanchez-Juan, Salvador Sarro, Theodore D. Satterthwaite, Andrew J. Saykin, Mauricio H. Serpa, Lianne Schmaal, Knut Schnell, Gunter Schumann, Kang Sim, Jordan W. Smoller, Iris Sommer, Carles Soriano-Mas, Dan J. Stein, Lachlan T. Strike, Suzanne C. Swagerman, Christian K. Tamnes, Henk S. Temmingh, Sophia Thomopoulos, Alexander S. Tomyshev, Diana Tordesillas-Gutierrez, Julian N. Trollor, Jessica A. Turner, Anne Uhlmann, Odile A. van den Heuvel, Dennis van den Meer, Nic J. A. van der Wee, Neeltje E. M. van Haren, Dennis van't Ent, Theo G. M. van Erp, Ilya M. Veer, Dick J. Veltman, Aristotle Voineskos, Henry Voelzke, Henrik Walter, Esther Walton, Lei Wang, Yang Wang, Thomas H. Wassink, Bernd Weber, Wei Wen, John D. West, Lars T. Westlye, Heather Whalley, Lara M. Wierenga, Katharina Wittfeld, Daniel H. Wolf, Amanda Worker, Margaret J. Wright, Kun Yang, Yulyia Yoncheva, Marcus Zanetti, Georg C. Ziegler, Paul M. Thompson, Danai Dima

Summary: The study used data from the ENIGMA Consortium to explore the relationship between age and cortical thickness, finding that most regions peak in cortical thickness during childhood, with a negative association between age and cortical thickness where the slope is steeper before the age of 30 and more gradual afterwards.

HUMAN BRAIN MAPPING (2022)

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Article Substance Abuse

Big Five Personality Traits and Illicit Drug Use: Specificity in Trait-Drug Associations

Genevieve F. Dash, Nicholas G. Martin, Wendy S. Slutske

Summary: Certain personality traits may increase the risk of using specific illicit drugs. The commonly identified associations between high neuroticism, low agreeableness, and low conscientiousness with drug use may be due to familial influences rather than personality itself. This insight can help predict the risk of illicit drug use more accurately and inform targeted prevention efforts.

PSYCHOLOGY OF ADDICTIVE BEHAVIORS (2023)

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Article Geriatrics & Gerontology

High polygenic risk score for exceptional longevity is associated with a healthy metabolic profile

Mary Revelas, Anbupalam Thalamuthu, Anna Zettergren, Christopher Oldmeadow, Jenna Najar, Nazib M. Seidu, Nicola J. Armstrong, Carlos Riveros, John B. Kwok, Peter R. Schofield, Julian N. Trollor, Margda Waern, Margaret J. Wright, Henrik Zetterberg, David Ames, Kaj Belnnow, Henry Brodaty, Rodney J. Scott, Ingmar Skoog, John R. Attia, Perminder S. Sachdev, Karen A. Mather

Summary: This study found that individuals with a high polygenic risk for exceptional longevity have a lower prevalence of metabolic syndrome, suggesting that high-risk individuals have a healthy metabolic profile that promotes longevity.

GEROSCIENCE (2023)

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Article Multidisciplinary Sciences

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

Else Eising, Nazanin Mirza-Schreiber, Eveline L. de Zeeuw, Carol A. Wang, Dongnhu T. Truong, Andrea G. Allegrini, Chin Yang Shapland, Gu Zhu, Karen G. Wigg, Margot L. Gerritse, Barbara Molz, Gokberk Alagoz, Alessandro Gialluisi, Filippo Abbondanza, Kaili Rimfeld, Marjolein van Donkelaar, Zhijie Liao, Philip R. Jansen, Till F. M. Andlauer, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Anders D. Borglum, Thomas Bourgeron, Daniel Brandeis, Fabiola Ceronihh, Valeria Csepe, Philip S. Dale, Peter F. de Jong, John C. DeFries, Jean-Francois Demonet, Ditte Demontis, Yu Feng, Scott D. Gordon, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan A. Hernandez-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Maureen W. Lovett, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Markus M. Nothen, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Kaitlyn M. Price, Veera M. Rajagopal, Franck Ramus, Louis Richer, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, John Stein, Lisa J. Struguuu, Joel B. Talcott, Henning Tiemeier, Marc P. van der Schroeff, Ellen Verhoef, Kate E. Watkins, Margaret Wilkinson, Margaret J. Wright, Cathy L. Barr, Dorret Boomsma, Manuel Carreiras, Marie-Christine J. Franken, Jeffrey R. Gruen, Michelle Luciano, Bertram Muller-Myhsok, Dianne F. Newbury, Richard K. Olson, Silvia Paracchini, Tomas Paus, Robert Plomin, Sheena Reilly, Gerd Schulte-Korn, J. Bruce Tomblin, Elsjevan Bergen, Andrew J. O. Whitehouse, Erik G. Willcutt, Beate St Pourcain, Clyde Francks, Simon E. Fisher

Summary: The use of spoken and written language is a fundamental human capacity. Genetic variation influences individual differences in reading- and language-related skills, with a heritability estimate of 30 to 80%. This study conducted a genome-wide association study on samples of 13,633 to 33,959 participants and identified a significant association between a genetic locus and word reading. All five reading-/language-related traits showed robust SNP heritability.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

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Article Psychology, Multidisciplinary

Polygenic influences associated with adolescent cognitive skills

Brittany L. Mitchell, Narelle K. Hansell, Kerrie McAloney, Nicholas G. Martin, Margaret J. Wright, Miguel E. Renteria, Katrina L. Grasby

Summary: Genes play an important role in children's cognitive ability. Recent advances in genomics have allowed us to test the effects of different genetic predispositions on cognitive outcomes. A study conducted on a cohort of Australian adolescent twins showed that polygenic risk scores for educational attainment, intelligence, and cognitive performance explained a certain percentage of variance in academic skills and intelligence test scores. Furthermore, it was found that genetic susceptibility to certain mental health disorders was associated with poorer performance on various cognitive and academic tests.

INTELLIGENCE (2022)

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Article Psychiatry

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Kaitlyn M. Price, Karen G. Wigg, Else Eising, Yu Feng, Kirsten Blokland, Margaret Wilkinson, Elizabeth N. Kerr, Sharon L. Guger, Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Timothy C. Bates, Manon Bernard, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valeria Csepe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Demonet, Eveline L. de Zeeuw, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Marianna E. Hayiou-Thomas, Juan Hernandez-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Mueller-Myhsok, Dianne F. Newbury, Markus M. Noethen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Korne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Erik G. Willcutt, Margaret J. Wright, Gu Zhu, Simon E. Fisher, Maureen W. Lovett, Lisa J. Strug, Cathy L. Barr

Summary: Reading Disability (RD) is often associated with difficulties in language phonology. Genome-wide association studies have identified genetic loci related to neuronal migration, axon guidance, and autism spectrum disorder (ASD) that may be implicated in RD. This study contributes candidate loci to the genetics of word reading and suggests that alleles linked to ASD risk may also be involved in word reading.

TRANSLATIONAL PSYCHIATRY (2022)

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Article Biochemistry & Molecular Biology

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression

V. Kartik Chundru, Riccardo E. Marioni, James G. D. Prendergast, Tian Lin, Allan J. Beveridge, Nicholas G. Martin, Grant W. Montgomery, David A. Hume, Ian J. Deary, Peter M. Visscher, Naomi R. Wray, Allan F. McRae

Summary: Testing the effect of rare variants on phenotypic variation is challenging due to the need for large cohorts. This study investigates the effect of rare genetic variants on DNA methylation (DNAm) and demonstrates their role in phenotypic variation. The study also shows that extreme levels of DNAm have functional consequences on gene expression.

HUMAN MOLECULAR GENETICS (2023)

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Article Neurosciences

The Heritability of Subjective Cognitive Complaints in Older Australian Twins

Amanda E. Selwood, Vibeke S. Catts, Katya Numbers, Teresa Lee, Anbupalam Thalamuthu, Margaret J. Wright, Perminder S. Sachdev

Summary: This study aimed to examine the heritability of subjective cognitive complaints (SCCs) and their correlations with memory ability, personality, and mood. The results showed that SCCs had moderate heritability and were genetically, environmentally, and phenotypically correlated with memory performance, personality, and mood. Specifically, mood was environmentally related to SCCs, while memory performance had a genetic correlation with SCCs. The link between personality and SCCs was mediated by mood. These findings suggest that SCCs are influenced by both mood and memory performance, and these determinants are not mutually exclusive.

JOURNAL OF ALZHEIMERS DISEASE (2023)

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Correction Genetics & Heredity

Discovery of 42 genome-wide significant loci associated with dyslexia (vol 54, pg 1621, 2022)

Catherine B. Doust, Pierre P. Fontanillas, Else F. Eising, Scott R. Gordon, Zhengjun K. Wang, Goekberk G. Alagoz, Barbara C. Molz, Beate D. St Pourcain, Clyde J. Francks, Riccardo E. G. Marioni, Jinging Zhao, Silvia C. Paracchini, Joel B. E. Talcott, Anthony P. Monaco, John DeFries, Bruce Pennington, Shelley Smith, Margaret Wright, Nicholas Martin, Timothy Bates, Simon Fisher, Michelle Luciano

NATURE GENETICS (2023)

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Article Multidisciplinary Sciences

The Queensland Twin Adolescent Brain Project, a longitudinal study of adolescent brain development

Lachlan T. Strike, Narelle K. Hansell, Kai-Hsiang Chuang, Jessica L. Miller, Greig I. de Zubicaray, Paul M. Thompson, Katie L. McMahon, Margaret J. Wright

Summary: The QTAB dataset includes multimodal neuroimaging, cognitive, and mental health data of adolescent twins. It provides a detailed methodology and technical validation for data usage. The project aims to promote health-related research in adolescence.

SCIENTIFIC DATA (2023)

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Article Endocrinology & Metabolism

Genetic determinants of thyroid function in children

Tessa A. Mulder, Purdey J. Campbell, Peter N. Taylor, Robin P. Peeters, Scott G. Wilson, Marco Medici, Colin Dayan, Vincent V. W. Jaddoe, John P. Walsh, Nicholas G. Martin, Henning Tiemeier, Tim I. M. Korevaar

Summary: This study found that the effects of many known thyroid function-related genes are already apparent in childhood, and some genes have a greater impact on children compared to adults. These findings provide new insights into the genetic regulation of thyroid function in early life.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2023)

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Article Genetics & Heredity

The Effect of Genetic Predisposition to Alzheimer's Disease and Related Traits on Recruitment Bias in a Study of Cognitive Aging

Lina M. Gomez, Brittany L. Mitchell, Kerrie McAloney, Jessica Adsett, Natalie Garden, Madeline Wood, Santiago Diaz-Torres, Luis M. Garcia-Marin, Michael Breakspear, Nicholas G. Martin, Michelle K. Lupton

Summary: The recruitment of participants for research studies may be biased. The Prospective Imaging Study of Ageing (PISA) aims to understand the traits and course of healthy adults at high risk of Alzheimer's disease (AD) in the future. The genetic data of successfully and unsuccessfully recruited participants from existing cohort studies were analyzed to investigate the genetic contribution to voluntary recruitment and genetic predisposition to AD. While no significant association was found between the genetic risk for AD and study participation, significant associations were observed with key causal risk factors for AD, such as IQ, household income, and years of education. Older age and female gender were also found to be factors influencing study participation. The findings underscore the importance of considering bias in key risk factors for AD when recruiting individuals for cohort studies.

TWIN RESEARCH AND HUMAN GENETICS (2023)

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