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1. Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

Author

Forsyth, Jennifer K, Mennigen, Eva, Lin, Amy, Sun, Daqiang, Vajdi, Ariana, Kushan-Wells, Leila, Ching, Christopher RK, Villalon-Reina, Julio E, Thompson, Paul M, Jonas, Rachel K, Pacheco-Hansen, Laura, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M, Fremont, Wanda, Kates, Wendy R, Campbell, Linda E, McCabe, Kathryn L, Craig, Michael C, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Murphy, Kieran C, Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T Blaine, Emanuel, Beverly S, Gur, Raquel E, McDonald-McGinn, Donna M, Roalf, David R, Ruparel, Kosha, Schmitt, J Eric, Zackai, Elaine H, Durdle, Courtney A, Goodrich-Hunsaker, Naomi J, Simon, Tony J, Bassett, Anne S, Butcher, Nancy J, Chow, Eva WC, Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne L, Linden, David E, Moss, Hayley, Owen, Michael J, van den Bree, Marianne, Crossley, Nicolas A, Repetto, Gabriela M, and Bearden, Carrie E

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Research, Genetics, Pediatric, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, 22q11 Deletion Syndrome, Brain Cortical Thickness, Case-Control Studies, Cerebral Cortex, DNA Copy Number Variations, Gene Expression Profiling, Gene Expression Regulation, Developmental, Haploinsufficiency, Humans, Magnetic Resonance Imaging, MicroRNAs, Mitochondrial Proteins, RNA-Binding Proteins, Receptors, Purinergic P2, copy number variant, cortical thickness, DGCR8, gene expression, surface area, 22q11.2 ENIGMA Consortium, Psychology, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
Abstract

22q11.2 deletion syndrome (22q11DS) results from a hemizygous deletion that typically spans 46 protein-coding genes and is associated with widespread alterations in brain morphology. The specific genetic mechanisms underlying these alterations remain unclear. In the 22q11.2 ENIGMA Working Group, we characterized cortical alterations in individuals with 22q11DS (n = 232) versus healthy individuals (n = 290) and conducted spatial convergence analyses using gene expression data from the Allen Human Brain Atlas to prioritize individual genes that may contribute to altered surface area (SA) and cortical thickness (CT) in 22q11DS. Total SA was reduced in 22q11DS (Z-score deviance = -1.04), with prominent reductions in midline posterior and lateral association regions. Mean CT was thicker in 22q11DS (Z-score deviance = +0.64), with focal thinning in a subset of regions. Regional expression of DGCR8 was robustly associated with regional severity of SA deviance in 22q11DS; AIFM3 was also associated with SA deviance. Conversely, P2RX6 was associated with CT deviance. Exploratory analysis of gene targets of microRNAs previously identified as down-regulated due to DGCR8 deficiency suggested that DGCR8 haploinsufficiency may contribute to altered corticogenesis in 22q11DS by disrupting cell cycle modulation. These findings demonstrate the utility of combining neuroanatomic and transcriptomic datasets to derive molecular insights into complex, multigene copy number variants.

Published
2021

2. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Author

Davies, Robert W, Fiksinski, Ania M, Breetvelt, Elemi J, Williams, Nigel M, Hooper, Stephen R, Monfeuga, Thomas, Bassett, Anne S, Owen, Michael J, Gur, Raquel E, Morrow, Bernice E, McDonald-McGinn, Donna M, Swillen, Ann, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E, Cubells, Joseph F, Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R, Murphy, Kieran C, Murphy, Clodagh M, Murphy, Declan G, Philip, Nicole, Repetto, Gabriela M, Shashi, Vandana, Simon, Tony J, Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W, Bearden, Carrie E, and Vorstman, Jacob AS

Subjects
Biomedical and Clinical Sciences, Health Sciences, Genetics, Schizophrenia, Serious Mental Illness, Behavioral and Social Science, Prevention, Brain Disorders, Clinical Research, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Aged, Child, Child, Preschool, Cognitive Dysfunction, Cohort Studies, DiGeorge Syndrome, Female, Genetic Variation, Humans, Intellectual Disability, Male, Middle Aged, Multifactorial Inheritance, Phenotype, Risk Factors, Young Adult, International 22q11.2 Brain and Behavior Consortium, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences
Abstract

The 22q11.2 deletion syndrome (22q11DS) is associated with a 20-25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants.

Published
2020

3. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Author

Villalón-Reina, Julio E, Martínez, Kenia, Qu, Xiaoping, Ching, Christopher RK, Nir, Talia M, Kothapalli, Deydeep, Corbin, Conor, Sun, Daqiang, Lin, Amy, Forsyth, Jennifer K, Kushan, Leila, Vajdi, Ariana, Jalbrzikowski, Maria, Hansen, Laura, Jonas, Rachel K, van Amelsvoort, Therese, Bakker, Geor, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, Campbell, Linda E, McCabe, Kathryn L, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan, Craig, Michael, Emanuel, Beverly, McDonald-McGinn, Donna M, Vorstman, Jacob AS, Fiksinski, Ania M, Koops, Sanne, Ruparel, Kosha, Roalf, David, Gur, Raquel E, Eric Schmitt, J, Simon, Tony J, Goodrich-Hunsaker, Naomi J, Durdle, Courtney A, Doherty, Joanne L, Cunningham, Adam C, van den Bree, Marianne, Linden, David EJ, Owen, Michael, Moss, Hayley, Kelly, Sinead, Donohoe, Gary, Murphy, Kieran C, Arango, Celso, Jahanshad, Neda, Thompson, Paul M, and Bearden, Carrie E

Subjects
Paediatrics, Biomedical and Clinical Sciences, Neurosciences, Pediatric, Biomedical Imaging, Mental Health, Clinical Research, Brain Disorders, Mental health, Adolescent, Adult, Anisotropy, Child, DiGeorge Syndrome, Diffusion Magnetic Resonance Imaging, Female, Humans, Male, Middle Aged, White Matter, Young Adult, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

22q11.2 deletion syndrome (22q11DS)-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with an elevated risk of psychosis and other developmental brain disorders. Prior single-site diffusion magnetic resonance imaging (dMRI) studies have reported altered white matter (WM) microstructure in 22q11DS, but small samples and variable methods have led to contradictory results. Here we present the largest study ever conducted of dMRI-derived measures of WM microstructure in 22q11DS (334 22q11.2 deletion carriers and 260 healthy age- and sex-matched controls; age range 6-52 years). Using harmonization protocols developed by the ENIGMA-DTI working group, we identified widespread reductions in mean, axial and radial diffusivities in 22q11DS, most pronounced in regions with major cortico-cortical and cortico-thalamic fibers: the corona radiata, corpus callosum, superior longitudinal fasciculus, posterior thalamic radiations, and sagittal stratum (Cohen's d's ranging from -0.9 to -1.3). Only the posterior limb of the internal capsule (IC), comprised primarily of corticofugal fibers, showed higher axial diffusivity in 22q11DS. 22q11DS patients showed higher mean fractional anisotropy (FA) in callosal and projection fibers (IC and corona radiata) relative to controls, but lower FA than controls in regions with predominantly association fibers. Psychotic illness in 22q11DS was associated with more substantial diffusivity reductions in multiple regions. Overall, these findings indicate large effects of the 22q11.2 deletion on WM microstructure, especially in major cortico-cortical connections. Taken together with findings from animal models, this pattern of abnormalities may reflect disrupted neurogenesis of projection neurons in outer cortical layers.

Published
2020

4. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

Author

Sun, Daqiang, Ching, Christopher RK, Lin, Amy, Forsyth, Jennifer K, Kushan, Leila, Vajdi, Ariana, Jalbrzikowski, Maria, Hansen, Laura, Villalon-Reina, Julio E, Qu, Xiaoping, Jonas, Rachel K, van Amelsvoort, Therese, Bakker, Geor, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, Campbell, Linda E, McCabe, Kathryn L, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan, Craig, Michael, Vorstman, Jacob, Fiksinski, Ania, Koops, Sanne, Ruparel, Kosha, Roalf, David R, Gur, Raquel E, Schmitt, J Eric, Simon, Tony J, Goodrich-Hunsaker, Naomi J, Durdle, Courtney A, Bassett, Anne S, Chow, Eva WC, Butcher, Nancy J, Vila-Rodriguez, Fidel, Doherty, Joanne, Cunningham, Adam, van den Bree, Marianne BM, Linden, David EJ, Moss, Hayley, Owen, Michael J, Murphy, Kieran C, McDonald-McGinn, Donna M, Emanuel, Beverly, van Erp, Theo GM, Turner, Jessica A, Thompson, Paul M, and Bearden, Carrie E

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Pediatric, Serious Mental Illness, Clinical Research, Mental Health, Schizophrenia, Brain Disorders, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Cerebral Cortex, Chromosome Deletion, DiGeorge Syndrome, Female, Gray Matter, Humans, Magnetic Resonance Imaging, Male, Psychotic Disorders, Young Adult, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date. The imaging data were collected from 10 centers worldwide, including 474 subjects with 22q11DS (age = 18.2 ± 8.6; 46.9% female) and 315 typically developing, matched controls (age = 18.0 ± 9.2; 45.9% female). Compared to controls, 22q11DS individuals showed thicker cortical gray matter overall (left/right hemispheres: Cohen's d = 0.61/0.65), but focal thickness reduction in temporal and cingulate cortex. Cortical surface area (SA), however, showed pervasive reductions in 22q11DS (left/right hemispheres: d = -1.01/-1.02). 22q11DS cases vs. controls were classified with 93.8% accuracy based on these neuroanatomic patterns. Comparison of 22q11DS-psychosis to idiopathic schizophrenia (ENIGMA-Schizophrenia Working Group) revealed significant convergence of affected brain regions, particularly in fronto-temporal cortex. Finally, cortical SA was significantly greater in 22q11DS cases with smaller 1.5 Mb deletions, relative to those with typical 3 Mb deletions. We found a robust neuroanatomic signature of 22q11DS, and the first evidence that deletion size impacts brain structure. Psychotic illness in this highly penetrant deletion was associated with similar neuroanatomic abnormalities to idiopathic schizophrenia. These consistent cross-site findings highlight the homogeneity of this single genetic etiology, and support the suitability of 22q11DS as a biological model of schizophrenia.

Published
2020

5. Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

Author

Ching, Christopher RK, Gutman, Boris A, Sun, Daqiang, Villalon Reina, Julio, Ragothaman, Anjanibhargavi, Isaev, Dmitry, Zavaliangos-Petropulu, Artemis, Lin, Amy, Jonas, Rachel K, Kushan, Leila, Pacheco-Hansen, Laura, Vajdi, Ariana, Forsyth, Jennifer K, Jalbrzikowski, Maria, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M, Fremont, Wanda, Kates, Wendy R, Campbell, Linda E, McCabe, Kathryn L, Craig, Michael C, Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Murphy, Kieran C, Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T Blaine, Emanuel, Beverly S, Gur, Raquel E, McDonald-McGinn, Donna M, Roalf, David R, Ruparel, Kosha, Schmitt, J Eric, Zackai, Elaine H, Durdle, Courtney A, Goodrich-Hunsaker, Naomi J, Simon, Tony J, Bassett, Anne S, Butcher, Nancy J, Chow, Eva WC, Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne, Linden, David E, Moss, Hayley, Owen, Michael J, van den Bree, Marianne, Crossley, Nicolas A, Repetto, Gabriela M, Thompson, Paul M, and Bearden, Carrie E

Subjects
Clinical Research, Serious Mental Illness, Brain Disorders, Mental Health, Schizophrenia, Clinical Trials and Supportive Activities, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Atrophy, Brain, Brain Mapping, Case-Control Studies, Child, DiGeorge Syndrome, Female, Humans, Hypertrophy, Magnetic Resonance Imaging, Male, Mental Disorders, Middle Aged, Psychotic Disorders, Young Adult, 22q11.2 Deletion Syndrome, Copy Number Variant, Neuroanatomy, Neurodevelopment, Psychosis, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Objective22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.MethodsSubcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individuals with 22q11DS and 330 matched healthy control subjects (age range, 6-56 years; 49% female).ResultsCompared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, -0.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, -0.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder.ConclusionsIn the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses.

Published
2020

6. Quantifying Sources of Variability in Infancy Research Using the Infant-Directed-Speech Preference

Author

Frank, Michael C, Alcock, Katherine Jane, Arias-Trejo, Natalia, Aschersleben, Gisa, Baldwin, Dare, Barbu, Stephanie, Bergelson, Elika, Bergmann, Christina, Black, Alexis K, Blything, Ryan, Bohland, Maximilian P, Bolitho, Petra, Borovsky, Arielle, Brady, Shannon M, Braun, Bettina, Brown, Anna, Byers-Heinlein, Krista, Campbell, Linda E, Cashon, Cara, Choi, Mihye, Christodoulou, Joan, Cirelli, Laura K, Conte, Stefania, Cordes, Sara, Cox, Christopher, Cristia, Alejandrina, Cusack, Rhodri, Davies, Catherine, de Klerk, Maartje, Delle Luche, Claire, de Ruiter, Laura, Dinakar, Dhanya, Dixon, Kate C, Durier, Virginie, Durrant, Samantha, Fennell, Christopher, Ferguson, Brock, Ferry, Alissa, Fikkert, Paula, Flanagan, Teresa, Floccia, Caroline, Foley, Megan, Fritzsche, Tom, Frost, Rebecca LA, Gampe, Anja, Gervain, Judit, Gonzalez-Gomez, Nayeli, Gupta, Anna, Hahn, Laura E, Hamlin, J Kiley, Hannon, Erin E, Havron, Naomi, Hay, Jessica, Hernik, Mikolaj, Hohle, Barbara, Houston, Derek M, Howard, Lauren H, Ishikawa, Mitsuhiko, Itakura, Shoji, Jackson, Iain, Jakobsen, Krisztina V, Jarto, Marianna, Johnson, Scott P, Junge, Caroline, Karadag, Didar, Kartushina, Natalia, Kellier, Danielle J, Keren-Portnoy, Tamar, Klassen, Kelsey, Kline, Melissa, Ko, Eon-Suk, Kominsky, Jonathan F, Kosie, Jessica E, Kragness, Haley E, Krieger, Andrea AR, Krieger, Florian, Lany, Jill, Lazo, Roberto J, Lee, Michelle, Leservoisier, Chloe, Levelt, Claartje, Lew-Williams, Casey, Lippold, Matthias, Liszkowski, Ulf, Liu, Liquan, Luke, Steven G, Lundwall, Rebecca A, Cassia, Viola Macchi, Mani, Nivedita, Marino, Caterina, Martin, Alia, Mastroberardino, Meghan, Mateu, Victoria, Mayor, Julien, Menn, Katharina, Michel, Christine, Moriguchi, Yusuke, Morris, Benjamin, Nave, Karli M, and Nazzi, Thierry

Subjects
language acquisition, speech perception, infant-directed speech, reproducibility, experimental methods, open data, open materials, preregistered, Behavioral and Social Science, Basic Behavioral and Social Science, Pediatric, Clinical Research
Abstract

Psychological scientists have become increasingly concerned with issues related to methodology and replicability, and infancy researchers in particular face specific challenges related to replicability: For example, high-powered studies are difficult to conduct, testing conditions vary across labs, and different labs have access to different infant populations. Addressing these concerns, we report on a large-scale, multisite study aimed at (a) assessing the overall replicability of a single theoretically important phenomenon and (b) examining methodological, cultural, and developmental moderators. We focus on infants’ preference for infant-directed speech (IDS) over adult-directed speech (ADS). Stimuli of mothers speaking to their infants and to an adult in North American English were created using seminaturalistic laboratory-based audio recordings. Infants’ relative preference for IDS and ADS was assessed across 67 laboratories in North America, Europe, Australia, and Asia using the three common methods for measuring infants’ discrimination (head-turn preference, central fixation, and eye tracking). The overall meta-analytic effect size (Cohen’s d) was 0.35, 95% confidence interval = [0.29, 0.42], which was reliably above zero but smaller than the meta-analytic mean computed from previous literature (0.67). The IDS preference was significantly stronger in older children, in those children for whom the stimuli matched their native language and dialect, and in data from labs using the head-turn preference procedure. Together, these findings replicate the IDS preference but suggest that its magnitude is modulated by development, native-language experience, and testing procedure.

Published
2020

7. Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome

Author

Psychosociale zorg patientenzorg, Ge, Ruiyang, Ching, Christopher R.K., Bassett, Anne S., Kushan, Leila, Antshel, Kevin M., van Amelsvoort, Therese, Bakker, Geor, Butcher, Nancy J., Campbell, Linda E., Chow, Eva W.C., Craig, Michael, Crossley, Nicolas A., Cunningham, Adam, Daly, Eileen, Doherty, Joanne L., Durdle, Courtney A., Emanuel, Beverly S., Fiksinski, Ania, Forsyth, Jennifer K., Fremont, Wanda, Goodrich-Hunsaker, Naomi J., Gudbrandsen, Maria, Gur, Raquel E., Jalbrzikowski, Maria, Kates, Wendy R., Lin, Amy, Linden, David E.J., McCabe, Kathryn L., McDonald-McGinn, Donna, Moss, Hayley, Murphy, Declan G., Murphy, Kieran C., Owen, Michael J., Villalon-Reina, Julio E., Repetto, Gabriela M., Roalf, David R., Ruparel, Kosha, Schmitt, J. Eric, Schuite-Koops, Sanne, Angkustsiri, Kathleen, Sun, Daqiang, Vajdi, Ariana, van den Bree, Marianne, Vorstman, Jacob, Thompson, Paul M., Vila-Rodriguez, Fidel, Bearden, Carrie E., Psychosociale zorg patientenzorg, Ge, Ruiyang, Ching, Christopher R.K., Bassett, Anne S., Kushan, Leila, Antshel, Kevin M., van Amelsvoort, Therese, Bakker, Geor, Butcher, Nancy J., Campbell, Linda E., Chow, Eva W.C., Craig, Michael, Crossley, Nicolas A., Cunningham, Adam, Daly, Eileen, Doherty, Joanne L., Durdle, Courtney A., Emanuel, Beverly S., Fiksinski, Ania, Forsyth, Jennifer K., Fremont, Wanda, Goodrich-Hunsaker, Naomi J., Gudbrandsen, Maria, Gur, Raquel E., Jalbrzikowski, Maria, Kates, Wendy R., Lin, Amy, Linden, David E.J., McCabe, Kathryn L., McDonald-McGinn, Donna, Moss, Hayley, Murphy, Declan G., Murphy, Kieran C., Owen, Michael J., Villalon-Reina, Julio E., Repetto, Gabriela M., Roalf, David R., Ruparel, Kosha, Schmitt, J. Eric, Schuite-Koops, Sanne, Angkustsiri, Kathleen, Sun, Daqiang, Vajdi, Ariana, van den Bree, Marianne, Vorstman, Jacob, Thompson, Paul M., Vila-Rodriguez, Fidel, and Bearden, Carrie E.

Published
2024

9. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

Author

Schneider, Maude, Debbané, Martin, Bassett, Anne S, Chow, Eva WC, Fung, Wai Lun Alan, van den Bree, Marianne, Owen, Michael, Murphy, Kieran C, Niarchou, Maria, Kates, Wendy R, Antshel, Kevin M, Fremont, Wanda, McDonald-McGinn, Donna M, Gur, Raquel E, Zackai, Elaine H, Vorstman, Jacob, Duijff, Sasja N, Klaassen, Petra WJ, Swillen, Ann, Gothelf, Doron, Green, Tamar, Weizman, Abraham, Van Amelsvoort, Therese, Evers, Laurens, Boot, Erik, Shashi, Vandana, Hooper, Stephen R, Bearden, Carrie E, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Murphy, Declan G, Ousley, Opal, Campbell, Linda E, Simon, Tony J, Eliez, Stephan, and International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Subjects
International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Humans, DiGeorge Syndrome, Intelligence, Mental Disorders, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Mood Disorders, Psychotic Disorders, Psychopathology, Age Factors, Sex Factors, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Psychiatry, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract

ObjectiveChromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants.MethodThe 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years.ResultsAttention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills.ConclusionsTo the authors’ knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.

Published
2014

10. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

Author

Saunders, Sean P, Goh, Christabelle SM, Brown, Sara J, Palmer, Colin NA, Porter, Rebecca M, Cole, Christian, Campbell, Linda E, Gierlinski, Marek, Barton, Geoffrey J, Schneider, Georg, Balmain, Allan, Prescott, Alan R, Weidinger, Stephan, Baurecht, Hansjörg, Kabesch, Michael, Gieger, Christian, Lee, Young-Ae, Tavendale, Roger, Mukhopadhyay, Somnath, Turner, Stephen W, Madhok, Vishnu B, Sullivan, Frank M, Relton, Caroline, Burn, John, Meggitt, Simon, Smith, Catherine H, Allen, Michael A, Barker, Jonathan NWN, Reynolds, Nick J, Cordell, Heather J, Irvine, Alan D, McLean, WH Irwin, Sandilands, Aileen, and Fallon, Padraic G

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Eczema / Atopic Dermatitis, Aetiology, 2.1 Biological and endogenous factors, Skin, Animals, Dermatitis, Atopic, Filaggrin Proteins, Gene Expression, Genetic Predisposition to Disease, Humans, Male, Membrane Proteins, Mice, Mutation, Phenotype, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Allergy, association, atopic dermatitis, atopy, eczema, filaggrin, flaky tail, Matt, mattrin, mouse, mutation, Tmem79, AD, Atopic dermatitis, DM, Double mutant, FLG, Filaggrin, HDM, High-power field, House dust mite, MAPEG, Membrane-associated proteins in eicosanoid and glutathione metabolism, OR, Odds ratio, SNP, Single nucleotide polymorphism, TEWL, Transepidermal water loss, WT, Wild-type, hpf
Abstract

BackgroundAtopic dermatitis (AD) is a major inflammatory condition of the skin caused by inherited skin barrier deficiency, with mutations in the filaggrin gene predisposing to development of AD. Support for barrier deficiency initiating AD came from flaky tail mice, which have a frameshift mutation in Flg and also carry an unknown gene, matted, causing a matted hair phenotype.ObjectiveWe sought to identify the matted mutant gene in mice and further define whether mutations in the human gene were associated with AD.MethodsA mouse genetics approach was used to separate the matted and Flg mutations to produce congenic single-mutant strains for genetic and immunologic analysis. Next-generation sequencing was used to identify the matted gene. Five independently recruited AD case collections were analyzed to define associations between single nucleotide polymorphisms (SNPs) in the human gene and AD.ResultsThe matted phenotype in flaky tail mice is due to a mutation in the Tmem79/Matt gene, with no expression of the encoded protein mattrin in the skin of mutant mice. Matt(ft) mice spontaneously have dermatitis and atopy caused by a defective skin barrier, with mutant mice having systemic sensitization after cutaneous challenge with house dust mite allergens. Meta-analysis of 4,245 AD cases and 10,558 population-matched control subjects showed that a missense SNP, rs6684514, [corrected] in the human MATT gene has a small but significant association with AD.ConclusionIn mice mutations in Matt cause a defective skin barrier and spontaneous dermatitis and atopy. A common SNP in MATT has an association with AD in human subjects.

Published
2013

12. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

Author

Bochner, Ron, Samuelov, Liat, Sarig, Ofer, Li, Qiaoli, Adase, Christopher A., Isakov, Ofer, Malchin, Natalia, Vodo, Dan, Shayevitch, Ronna, Peled, Alon, Yu, Benjamin D., Fainberg, Gilad, Warshauer, Emily, Adir, Noam, Erez, Noam, Gat, Andrea, Gottlieb, Yehonatan, Rogers, Tova, Pavlovsky, Mor, Goldberg, Ilan, Shomron, Noam, Sandilands, Aileen, Campbell, Linda E., MacCallum, Stephanie, McLean, W. H. Irwin, Ast, Gil, Gallo, Richard L., Uitto, Jouni, and Sprecher, Eli

Published
2017
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13. Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Author

Ge, Ruiyang, Ching, Christopher R. K., Bassett, Anne S., Kushan, Leila, Antshel, Kevin M., van Amelsvoort, Therese, Bakker, Geor, Butcher, Nancy J., Campbell, Linda E., Chow, Eva W. C., Craig, Michael, Crossley, Nicolas A., Cunningham, Adam, Daly, Eileen, Doherty, Joanne L., Durdle, Courtney A., Emanuel, Beverly S., Fiksinski, Ania, Forsyth, Jennifer K., and Fremont, Wanda

Subjects
DIGEORGE syndrome, BRAIN abnormalities, MORPHOMETRICS, VOXEL-based morphometry, GRAY matter (Nerve tissue), 22Q11 deletion syndrome
Abstract

22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1‐weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source‐based morphometry (SBM) pipeline (SS‐Detect) to generate structural brain patterns (SBPs) that capture co‐varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV‐SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel‐based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism. [ABSTRACT FROM AUTHOR]

Published
2024
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16. Brain and Behavior in Children with 22Q11.2 Deletion Syndrome: A Volumetric and Voxel-Based Morphometry MRI Study

Author

Campbell, Linda E., Daly, Eileen, and Toal, Fiona

Abstract

In people with velo-cardio-facial syndrome [or 22q11.2 deletion syndrome (22qDS)], a single interstitial deletion of chromosome 22q11.2 causes a wide spectrum of cognitive deficits ranging from global learning difficulties to specific cognitive deficits. People with 22qDS are also at high risk of developing attention-deficit hyperactivity disorder and autism spectrum disorders in childhood, and schizophrenia in adolescence or adult life. However, the neurobiology of 22qDS, and the relationship between abnormalities in brain anatomy and behavior, is poorly understood. Thus, the authors studied the neuroanatomy of 22qDS children using fully automated voxel-based morphometry (VBM) and manually traced single region-of-interest (ROI) analysis. Also, they investigated whether those brain regions that differed significantly between groups were related to behavioral differences within children with 22qDS. They compared the brain morphometry of 39 children and adolescents with 22qDS (mean age: 11 years, SD plus/minus 3, IQ = 67, SD plus/minus 10) and 26 sibling controls (mean age: 11 years, SD plus/minus 3, IQ = 102, SD plus/minus 12). Using VBM, we found, after correction for IQ, that individuals with 22qDS compared with controls had a significant reduction in cerebellar grey matter, and white matter reductions in the frontal lobe, cerebellum and internal capsule. Using single ROI analysis, we found that people with 22qDS had a significant (P less than 0.05) reduction in bulk volume bilaterally in the occipital-parietal lobes, but a larger right caudate nucleus and lateral ventricles. Further, within people with 22qDS, there was a significant positive correlation between severity of (i) schizotypy score and grey matter volume of the temporo-occipital regions and the corpus striatum; (ii) emotional problems and grey matter volume of frontostriatal regions; and (iii) social behavioral difficulties and grey matter in frontostriatal regions. Thus, subjects with 22qDS have widespread changes in brain anatomy, particularly affecting white matter, basal ganglia and cerebellum. Also, within 22qDS, regionally specific differences in brain development may partially underpin behavioral differences. We suggest that there is preliminary evidence for specific vulnerability of the frontostriatal and cerebellar-cortical networks in 22qDS.

Published
2006
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18. Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis

Author

Bergboer, Judith G.M., Zeeuwen, Patrick L.J.M., Irvine, Alan D., Weidinger, Stephan, Giardina, Emiliano, Novelli, Giuseppe, Heijer, Martin Den, Rodriguez, Elke, Illig, Thomas, Riveira-Munoz, Eva, Campbell, Linda E., Tyson, Jess, Dannhauser, Emma N., O'Regan, Gráinne M., Galli, Elena, Klopp, Norman, Koppelman, Gerard H., Novak, Natalija, Estivill, Xavier, McLean, W H Irwin, Postma, Dirkje S., Armour, John A.L., and Schalkwijk, Joost

Published
2010
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21. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, Ida E, Ching, Christopher R K, Ayesa-Arriola, Rosa, Thompson, Paul M, Bearden, Carrie E, Andreassen, Ole A, Group, ENIGMA-CNV Working, 2 Deletion Syndrome Working Group, ENIGMA 22q11., Bernard, Manon, Blackburn, Nicholas B, Bøen, Rune, de Geus, Eco, de Zwarte, Sonja M C, Bakker, Geor, Forti, Marta Di, Frei, Oleksandr, Fukunaga, Masaki, Hehir-Kwa, Jayne Y, Hillegers, Manon H J, Hoffmann, Per, Homuth, Georg, Jahanshad, Neda, Koops, Sanne, Kumar, Kuldeep, Bassett, Anne S, Kikuchi, Masataka, Le Hellard, Stephanie, Leu, Costin, Murray, Robin M, Naerland, Terje, Nyberg, Lars, Ophoff, Roel A, Pike, G Bruce, Sando, Sigrid B, Shin, Jean, Boomsma, Dorret I, Shumskaya, Elena, Sisodiya, Sanjay M, Steen, Vidar M, Teumer, Alexander, Uhlmann, Anne, Wright, Margaret J, Antshel, Kevin M, Campbell, Linda E, Crossley, Nicolas A, Crowley, T Blaine, Bülow, Robin, Daly, Eileen, Fiksinski, Ania M, Forsyth, Jennifer K, Fremont, Wanda, Goodrich-Hunsaker, Naomi J, Gudbrandsen, Maria, Jonas, Rachel K, Kates, Wendy R, Lin, Amy, McCabe, Kathryn L, Butcher, Nancy J, Moss, Hayley, Murphy, Declan G, Murphy, Kieran C, Owen, Michael J, Ruparel, Kosha, Simon, Tony J, van Amelsvoort, Therese, Vorstman, Jacob A S, Calhoun, Vince D, Caspers, Svenja, Chow, Eva W C, Cichon, Sven, Thomopoulos, Sophia I, Ciufolini, Simone, Craig, Michael C, Crespo-Facorro, Benedicto, Cunningham, Adam C, Dale, Anders M, Dazzan, Paola, de Zubicaray, Greig I, Djurovic, Srdjan, Doherty, Joanne L, Donohoe, Gary, van der Meer, Dennis, Draganski, Bogdan, Durdle, Courtney A, Ehrlich, Stefan, Emanuel, Beverly S, Espeseth, Thomas, Fisher, Simon E, Ge, Tian, Glahn, David C, Grabe, Hans J, Gur, Raquel E, Sun, Daqiang, Gutman, Boris A, Haavik, Jan, Håberg, Asta K, Hansen, Laura A, Hashimoto, Ryota, Hibar, Derrek P, Holmes, Avram J, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E, Jalbrzikowski, Maria, Villalon-Reina, Julio E, Knowles, Emma E M, Kushan, Leila, Linden, David E J, Liu, Jingyu, Lundervold, Astri J, Martin-Brevet, Sandra, Martínez, Kenia, Mather, Karen A, Mathias, Samuel R, McDonald-McGinn, Donna M, Agartz, Ingrid, McRae, Allan F, Medland, Sarah E, Moberget, Torgeir, Modenato, Claudia, Monereo Sánchez, Jennifer, Moreau, Clara A, Mühleisen, Thomas W, Paus, Tomas, Pausova, Zdenka, Prieto, Carlos, Amunts, Katrin, Ragothaman, Anjanibhargavi, Reinbold, Céline S, Reis Marques, Tiago, Repetto, Gabriela M, Reymond, Alexandre, Roalf, David R, Rodriguez-Herreros, Borja, Rucker, James J, Sachdev, Perminder S, Schmitt, James E, Arango, Celso, Schofield, Peter R, Silva, Ana I, Stefansson, Hreinn, Stein, Dan J, Tamnes, Christian K, Tordesillas-Gutiérrez, Diana, Ulfarsson, Magnus O, Vajdi, Ariana, van 't Ent, Dennis, van den Bree, Marianne B M, Armstrong, Nicola J, Vassos, Evangelos, Vázquez-Bourgon, Javier, Vila-Rodriguez, Fidel, Walters, G Bragi, Wen, Wei, Westlye, Lars T, Wittfeld, Katharina, Zackai, Elaine H, Stefánsson, Kári, Jacquemont, Sebastien, the ENIGMA-CNV Working Group, the ENIGMA 22q11.2 Deletion Syndrome Working Group, Stochastics, Biological Psychology, APH - Mental Health, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, and Universidad de Cantabria

Subjects
Review Article, genetics [Mental Disorders], 0302 clinical medicine, genetics-first approach, pathology [Brain], Multicenter Studies as Topic, Copy-number variation, Review Articles, education.field_of_study, brain structural imaging, Radiological and Ultrasound Technology, genetics [Neurodevelopmental Disorders], Mental Disorders, neurodevelopmental disorders, 05 social sciences, growth & development [Brain], Brain, pathology [Mental Disorders], Cognition, Human brain, diffusion tensor imaging, Magnetic Resonance Imaging, diagnostic imaging [Neurodevelopmental Disorders], medicine.anatomical_structure, psychiatric disorders, Neurology, Anatomy, medicine.medical_specialty, Brain development, DNA Copy Number Variations, Population, Neuroimaging, Biology, 050105 experimental psychology, 03 medical and health sciences, evolution, medicine, pathology [Neurodevelopmental Disorders], Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, Deletion syndrome, copy number variant, ddc:610, genetics‐first approach, education, Psychiatry, diagnostic imaging [Brain], Neurology (clinical), Working group, 030217 neurology & neurosurgery, diagnostic imaging [Mental Disorders]
Abstract

The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA‐CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q‐ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest‐ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi‐site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene‐dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype‐first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior., The enhancing neuroimaging genetics through meta‐analysis (ENIGMA) copy number variant (CNV) and 22q11.2 Working Groups focus on gaining insight into how rare genetic variants affect human brain development, cognition, and behavior. The two ENIGMA working groups have collated CNV and brain‐imaging data from numerous individuals, gathered by numerous international research centers, and analyzed this data with standardized processing and analysis pipelines. Future directions for the ENIGMA CNV and 22q11.2 working groups are to analyze CNVs with larger sample sizes and more imaging modalities to better understand how rare genetic variants affect the brain, and their clinical and behavioral consequences.

Published
2021
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23. Filaggrin Null Alleles Are Not Associated with Psoriasis

Author

Zhao, Yiwei, Terron-Kwiatkowski, Ana, Liao, Haihui, Lee, Simon P., Allen, Michael H., Hull, Peter R., Campbell, Linda E., Trembath, Richard C., Capon, Francesca, Griffiths, Christopher E.M., Burden, David, McManus, Ross, Hughes, Rosalind, Kirby, Brian, Rogers, Sarah F., Fitzgerald, Oliver, Kane, David, Barker, Jonathan N.W.N., Palmer, Colin N.A., Irvine, Alan D., and Irwin McLean, W.H.

Published
2007
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24. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

Author

Onderzoek, Beeldverwerking ISI, Chair, Directie Raad van Bestuur, Psychosociale zorg patientenzorg, Brain, Child Health, Onderzoeksgroep 11, Davies, Robert W., Fiksinski, Ania M., Breetvelt, Elemi J., Williams, Nigel M., Hooper, Stephen R., Monfeuga, Thomas, Bassett, Anne S., Owen, Michael J., Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W.C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Cubells, Joseph F., Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W., Epstein, Michael P., Warren, Stephen T., Morrison, Sinead, Chawner, Samuel, Vingerhoets, Claudia, Breckpot, Jeroen, Vergaelen, Elfi, Vogels, Annick, Monks, Stephen, Prasad, Sarah E., Schneider, Maude, Duijff, Sasja N., Kahn, René S., Houben, Michiel, Vorstman, Jacob A.S., International 22q11.2 Brain and Behavior Consortium, Onderzoek, Beeldverwerking ISI, Chair, Directie Raad van Bestuur, Psychosociale zorg patientenzorg, Brain, Child Health, Onderzoeksgroep 11, Davies, Robert W., Fiksinski, Ania M., Breetvelt, Elemi J., Williams, Nigel M., Hooper, Stephen R., Monfeuga, Thomas, Bassett, Anne S., Owen, Michael J., Gur, Raquel E., Morrow, Bernice E., McDonald-McGinn, Donna M., Swillen, Ann, Chow, Eva W.C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., van Amelsvoort, Therese, Arango, Celso, Armando, Marco, Campbell, Linda E., Cubells, Joseph F., Eliez, Stephan, Garcia-Minaur, Sixto, Gothelf, Doron, Kates, Wendy R., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan G., Philip, Nicole, Repetto, Gabriela M., Shashi, Vandana, Simon, Tony J., Suñer, Damiàn Heine, Vicari, Stefano, Scherer, Stephen W., Epstein, Michael P., Warren, Stephen T., Morrison, Sinead, Chawner, Samuel, Vingerhoets, Claudia, Breckpot, Jeroen, Vergaelen, Elfi, Vogels, Annick, Monks, Stephen, Prasad, Sarah E., Schneider, Maude, Duijff, Sasja N., Kahn, René S., Houben, Michiel, Vorstman, Jacob A.S., and International 22q11.2 Brain and Behavior Consortium

Published
2020

25. Discriminating power of localized three-dimensional facial morphology

Author

Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Buxton, Bernard, Campbell, Linda E., Clayton-Smith, Jill, Donnai, Dian, Karmiloff-Smith, Annette, Metcalfe, Kay, Murphy, Kieran C., Patton, Michael, Pober, Barbara, Prescott, Katrina, Scambler, Pete, Shaw, Adam, Smith, Ann C.M., Stevens, Angela F., Temple, I. Karen, Hennekam, Raoul, and Tassabehji, May

Subjects
Genetic disorders -- Research, Genetic disorders -- Diagnosis, Human genetics -- Research, Biological sciences
Published
2005

27. Be Healthe for Your Heart: A Pilot Randomized Controlled Trial Evaluating a Web-Based Behavioral Intervention to Improve the Cardiovascular Health of Women with a History of Preeclampsia

Author

Hutchesson, Melinda J., primary, Taylor, Rachael, additional, Shrewsbury, Vanessa A., additional, Vincze, Lisa, additional, Campbell, Linda E., additional, Callister, Robin, additional, Park, Felicity, additional, Schumacher, Tracy L., additional, and Collins, Clare E., additional

Published
2020
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28. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Author

Villalón-Reina, Julio E., primary, Martínez, Kenia, additional, Qu, Xiaoping, additional, Ching, Christopher R. K., additional, Nir, Talia M., additional, Kothapalli, Deydeep, additional, Corbin, Conor, additional, Sun, Daqiang, additional, Lin, Amy, additional, Forsyth, Jennifer K., additional, Kushan, Leila, additional, Vajdi, Ariana, additional, Jalbrzikowski, Maria, additional, Hansen, Laura, additional, Jonas, Rachel K., additional, van Amelsvoort, Therese, additional, Bakker, Geor, additional, Kates, Wendy R., additional, Antshel, Kevin M., additional, Fremont, Wanda, additional, Campbell, Linda E., additional, McCabe, Kathryn L., additional, Daly, Eileen, additional, Gudbrandsen, Maria, additional, Murphy, Clodagh M., additional, Murphy, Declan, additional, Craig, Michael, additional, Emanuel, Beverly, additional, McDonald-McGinn, Donna M., additional, Vorstman, Jacob A.S., additional, Fiksinski, Ania M., additional, Koops, Sanne, additional, Ruparel, Kosha, additional, Roalf, David, additional, Gur, Raquel E., additional, Eric Schmitt, J., additional, Simon, Tony J., additional, Goodrich-Hunsaker, Naomi J., additional, Durdle, Courtney A., additional, Doherty, Joanne L., additional, Cunningham, Adam C., additional, van den Bree, Marianne, additional, Linden, David E. J., additional, Owen, Michael, additional, Moss, Hayley, additional, Kelly, Sinead, additional, Donohoe, Gary, additional, Murphy, Kieran C., additional, Arango, Celso, additional, Jahanshad, Neda, additional, Thompson, Paul M., additional, and Bearden, Carrie E., additional

Published
2019
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30. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

Author

Sun, Daqiang, primary, Ching, Christopher R. K., additional, Lin, Amy, additional, Forsyth, Jennifer K., additional, Kushan, Leila, additional, Vajdi, Ariana, additional, Jalbrzikowski, Maria, additional, Hansen, Laura, additional, Villalon-Reina, Julio E., additional, Qu, Xiaoping, additional, Jonas, Rachel K., additional, van Amelsvoort, Therese, additional, Bakker, Geor, additional, Kates, Wendy R., additional, Antshel, Kevin M., additional, Fremont, Wanda, additional, Campbell, Linda E., additional, McCabe, Kathryn L., additional, Daly, Eileen, additional, Gudbrandsen, Maria, additional, Murphy, Clodagh M., additional, Murphy, Declan, additional, Craig, Michael, additional, Vorstman, Jacob, additional, Fiksinski, Ania, additional, Koops, Sanne, additional, Ruparel, Kosha, additional, Roalf, David R., additional, Gur, Raquel E., additional, Schmitt, J. Eric, additional, Simon, Tony J., additional, Goodrich-Hunsaker, Naomi J., additional, Durdle, Courtney A., additional, Bassett, Anne S., additional, Chow, Eva W. C., additional, Butcher, Nancy J., additional, Vila-Rodriguez, Fidel, additional, Doherty, Joanne, additional, Cunningham, Adam, additional, van den Bree, Marianne B.M., additional, Linden, David E. J., additional, Moss, Hayley, additional, Owen, Michael J., additional, Murphy, Kieran C., additional, McDonald-McGinn, Donna M., additional, Emanuel, Beverly, additional, van Erp, Theo G. M., additional, Turner, Jessica A., additional, Thompson, Paul M., additional, and Bearden, Carrie E., additional

Published
2018
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31. Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome

Author

Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W C, Van Amelsvoort, Therese, McDonald-Mcginn, Donna M., Gur, Raquel E., Swillen, Ann, van den Bree, Marianne B M, Murphy, Kieran C., Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy R., Philip, Nicole, Sashi, Vandana, Campbell, Linda E., Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony J., Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, Van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael J, Murphy, Clodagh M., Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen R., McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., Marshall, Christian R., Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W C, Van Amelsvoort, Therese, McDonald-Mcginn, Donna M., Gur, Raquel E., Swillen, Ann, van den Bree, Marianne B M, Murphy, Kieran C., Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy R., Philip, Nicole, Sashi, Vandana, Campbell, Linda E., Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony J., Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, Van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael J, Murphy, Clodagh M., Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen R., McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., and Marshall, Christian R.

Published
2017

32. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Author

Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-Mcginn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin M., Arango, Celso, Armando, Marco, Bassett, Anne S., Bearden, Carrie E., Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy J., Campbell, Linda E., Carmel, Miri, Chow, Eva W C, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Epstein, Michael P., Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben C., Gur, Raquel E., Heine-Suner, Damian, Hestand, Matthew, Vorstman, Jacob, International 22q11.2 Brain and Behavior Consortium, Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-Mcginn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin M., Arango, Celso, Armando, Marco, Bassett, Anne S., Bearden, Carrie E., Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy J., Campbell, Linda E., Carmel, Miri, Chow, Eva W C, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Epstein, Michael P., Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben C., Gur, Raquel E., Heine-Suner, Damian, Hestand, Matthew, Vorstman, Jacob, and International 22q11.2 Brain and Behavior Consortium

Published
2017

33. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Author

Ontwikkelingsstoornissen Med., Psychosociale zorg patientenzorg, Brain, Child Health, Onderzoek, Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-Mcginn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin M., Arango, Celso, Armando, Marco, Bassett, Anne S., Bearden, Carrie E., Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy J., Campbell, Linda E., Carmel, Miri, Chow, Eva W C, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Epstein, Michael P., Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben C., Gur, Raquel E., Heine-Suner, Damian, Hestand, Matthew, Vorstman, Jacob, International 22q11.2 Brain and Behavior Consortium, Ontwikkelingsstoornissen Med., Psychosociale zorg patientenzorg, Brain, Child Health, Onderzoek, Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-Mcginn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., Antshel, Kevin M., Arango, Celso, Armando, Marco, Bassett, Anne S., Bearden, Carrie E., Boot, Erik, Bravo-Sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy J., Campbell, Linda E., Carmel, Miri, Chow, Eva W C, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Epstein, Michael P., Evers, Rens, Fernandez Garcia-Moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben C., Gur, Raquel E., Heine-Suner, Damian, Hestand, Matthew, Vorstman, Jacob, and International 22q11.2 Brain and Behavior Consortium

Published
2017

34. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Author

Onderzoek, Brain, Psychosociale zorg patientenzorg, Child Health, Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W C, Van Amelsvoort, Therese, McDonald-Mcginn, Donna M., Gur, Raquel E., Swillen, Ann, van den Bree, Marianne B M, Murphy, Kieran C., Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy R., Philip, Nicole, Sashi, Vandana, Campbell, Linda E., Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony J., Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, Van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael J, Murphy, Clodagh M., Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen R., McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., Marshall, Christian R., Onderzoek, Brain, Psychosociale zorg patientenzorg, Child Health, Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W C, Van Amelsvoort, Therese, McDonald-Mcginn, Donna M., Gur, Raquel E., Swillen, Ann, van den Bree, Marianne B M, Murphy, Kieran C., Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy R., Philip, Nicole, Sashi, Vandana, Campbell, Linda E., Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony J., Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, Van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael J, Murphy, Clodagh M., Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen R., McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., and Marshall, Christian R.

Published
2017

35. The Association between Domestic Water Hardness, Chlorine and Atopic Dermatitis Risk in Early Life:A Population-Based Cross-Sectional Study

Author

Perkin, Michael R., Craven, Joanna, Logan, Kirsty, Strachan, David, Marrs, Tom, Radulovic, Suzana, Campbell, Linda E., MacCallum, Stephanie F., McLean, W.H. Irwin, Lack, Gideon, and Flohr, Carsten

Subjects
atopic dermatitis, polycyclic compounds, transepidermal water loss, eczema, water hardness, Filaggrin
Abstract

BackgroundDomestic water hardness and chlorine have been suggested as important risk factors for atopic dermatitis (AD).ObjectiveWe sought to examine the link between domestic water calcium carbonate (CaCO3) and chlorine concentrations, skin barrier dysfunction (increased transepidermal water loss), and AD in infancy.MethodsWe recruited 1303 three-month-old infants from the general population and gathered data on domestic water CaCO3 (in milligrams per liter) and chlorine (Cl2; in milligrams per liter) concentrations from local water suppliers. At enrollment, infants were examined for AD and screened for filaggrin (FLG) skin barrier gene mutation status. Transepidermal water loss was measured on unaffected forearm skin.ResultsCaCO3 and chlorine levels were strongly correlated. A hybrid variable of greater than and less than median levels of CaCO3 and total chlorine was constructed: a baseline group of low CaCO3/low total chlorine (CaL/ClL), high CaCO3/low total chlorine (CaH/ClL), low CaCO3/high total chlorine (CaL/ClH) and high CaCO3/high total chlorine (CaH/ClH). Visible AD was more common in all 3 groups versus the baseline group: adjusted odds ratio (AOR) of 1.87 (95% CI, 1.25-2.80; P = .002) for the CaH/ClL group, AOR of 1.46 (95% CI, 0.97-2.21; P = .07) for the CaL/ClH, and AOR of 1.61 (95% CI, 1.09-2.38; P = .02) for the CaH/ClH group. The effect estimates were greater in children carrying FLG mutations, but formal interaction testing between water quality groups and filaggrin status was not statistically significant.ConclusionsHigh domestic water CaCO3 levels are associated with an increased risk of AD in infancy. The influence of increased total chlorine levels remains uncertain. An intervention trial is required to see whether installation of a domestic device to decrease CaCO3 levels around the time of birth can reduce this risk.

Published
2016
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36. [In Process Citation]

Author

Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), and RS: MHeNs - R2 - Mental Health

Subjects
Male, Chromosomes, Human, Pair 22, Neuropsychological Tests, Pair 22 / genetics, ddc:616.89, 0302 clinical medicine, Risk Factors, Psychology, Prospective Studies, Cognitive decline, Child, Prospective cohort study, Pediatric, Intelligence Tests, Intelligence quotient, Psychiatric assessment, Age Factors, Serious Mental Illness, 3. Good health, Psychiatry and Mental health, Mental Health, Schizophrenia, Cognitive Sciences, Female, Human, Clinical psychology, Psychosis, Adolescent, International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Chromosomes, Article, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Arts and Humanities (miscellaneous), Clinical Research, Genetic model, medicine, DiGeorge Syndrome, Dementia, Humans, Other Medical and Health Sciences, Prevention, medicine.disease, Brain Disorders, 030227 psychiatry, Chromosomes, Human, Pair 22 / genetics, Psychotic Disorders, Pair 22, Cognition Disorders, 030217 neurology & neurosurgery
Abstract

© 2015 American Medical Association. All rights reserved. Importance: Patients with 22q11.2 deletion syndrome (22q11DS) have an elevated (25%) risk of developing schizophrenia. Recent reports have suggested that a subgroup of children with 22q11DS display a substantial decline in cognitive abilities starting at a young age.Objective: To determine whether early cognitive decline is associated with risk of psychotic disorder in 22q11DS.Design, Setting, And Participants: Prospective longitudinal cohort study. As part of an international research consortium initiative, we used the largest data set of intelligence (IQ) measurements in patients with 22q11DS reported to date to investigate longitudinal IQ trajectories and the risk of subsequent psychotic illness. A total of 829 patients with a confirmed hemizygous 22q11.2 deletion, recruited through 12 international clinical research sites, were included. Both psychiatric assessments and longitudinal IQ measurements were available for a subset of 411 patients (388 with≥1 assessment at age 8-24 years).Main Outcomes And Measures: Diagnosis of a psychotic disorder, initial IQ, longitudinal IQ trajectory, and timing of the last psychiatric assessment with respect to the last IQ test.Results: Among 411 patients with 22q11DS, 55 (13.4%) were diagnosed as having a psychotic disorder. The mean (SD) age at the most recent psychiatric assessment was 16.1 (6.2) years. The mean (SD) full-scale IQ at first cognitive assessment was lower in patients who developed a psychotic disorder (65.5 [12.0]) compared with those without a psychotic disorder (74.0 [14.0]). On average, children with 22q11DS showed a mild decline in IQ (full-scale IQ, 7.04 points) with increasing age, particularly in the domain of verbal IQ (9.02 points). In those who developed psychotic illness, this decline was significantly steeper (P < .001). Those with a negative deviation from the average cognitive trajectory observed in 22q11DS were at significantly increased risk for the development of a psychotic disorder (odds ratio = 2.49; 95%CI, 1.24-5.00; P = .01). The divergence of verbal IQ trajectories between those who subsequently developed a psychotic disorder and those who did not was distinguishable from age 11 years onward.Conclusions And Relevance: In 22q11DS, early cognitive decline is a robust indicator of the risk of developing a psychotic illness. These findings mirror those observed in idiopathic schizophrenia. The results provide further support for investigations of 22q11DS as a genetic model for elucidating neurobiological mechanisms underlying the development of psychosis.

Published
2015
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37. Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study

Author

Visser, Maaike J, Verberk, Maarten M, Campbell, Linda E, McLean, W H Irwin, Calkoen, Florentine, Bakker, Jan G, van Dijk, Frank J H, Bos, Jan D, Kezic, Sanja, Other departments, Amsterdam Public Health, Coronel Institute of Occupational Health, and Dermatology

Subjects
filaggrin, atopic dermatitis, Skin Cream, Nurses, Original Articles, Hand Dermatoses, Filaggrin Proteins, susceptibility, Permeability, Dermatitis, Atopic, Dermatitis, Occupational, Intermediate Filament Proteins, occupational diseases, Risk Factors, immune system diseases, Mutation, otorhinolaryngologic diseases, Dermatitis, Irritant, Humans, hand eczema, Genetic Predisposition to Disease, Prospective Studies, skin and connective tissue diseases, Hand Disinfection, Skin
Abstract

Summary Background/objectives Environmental exposure and personal susceptibility both contribute to the development of hand eczema. In this study, we investigated the effect of loss-of-function mutations in the filaggrin gene (FLG), atopic dermatitis and wet work exposure on the development of hand eczema in apprentice nurses. Methods Dutch apprentice nurses were genotyped for the four most common FLG mutations; atopic dermatitis and hand eczema history were assessed by questionnaire. Exposure and hand eczema during traineeships were assessed with diary cards. Results The prevalence of hand eczema during traineeships was higher among subjects with a history of hand eczema reported at inclusion. Hand washing during traineeships and at home increased the risk of hand eczema. After adjustment for the effects of exposure and FLG mutations, an odds ratio of 2.5 (90% confidence interval 1.7–3.7) was found for a history of atopic dermatitis. In this study, an increased risk of hand eczema conferred by FLG mutations could not be shown, but subjects with concomitant FLG mutations and atopic dermatitis showed the highest risk of hand eczema during traineeships. Conclusion A history of atopic dermatitis, a history of hand eczema and wet work exposure were the most important factors increasing the risk of hand eczema during traineeships.

Published
2014

39. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

Author

Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., and Pontillo, Maria

Published
2015

40. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

Author

Cluster Ontwikkelingsgerichte zorg, Ontwikkelingsstoornissen Med., Brain, Psychosociale zorg patientenzorg, Child Health, Risico & Preventie Ond., Onderzoek, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., Pontillo, Maria, Cluster Ontwikkelingsgerichte zorg, Ontwikkelingsstoornissen Med., Brain, Psychosociale zorg patientenzorg, Child Health, Risico & Preventie Ond., Onderzoek, Vorstman, Jacob A S, Breetvelt, Elemi J., Duijff, Sasja N., Eliez, Stephan, Schneider, Maude, Jalbrzikowski, Maria, Armando, Marco, Vicari, Stefano, Shashi, Vandana, Hooper, Stephen R., Chow, Eva W C, Fung, Wai Lun Alan, Butcher, Nancy J., Young, Donald A., McDonald-McGinn, Donna M., Vogels, Annick, Van Amelsvoort, Therese, Gothelf, Doron, Weinberger, Ronnie, Weizman, Abraham, Klaassen, Petra W J, Koops, Sanne, Kates, Wendy R., Antshel, Kevin M., Simon, Tony J., Ousley, Opal Y., Swillen, Ann, Gur, Raquel E., Bearden, Carrie E., Kahn, René S., Bassett, Anne S., Emanuel, Beverly S., Zackai, Elaine H., Kushan, Leila, Fremont, Wanda, Schoch, Kelly, Stoddard, Joel, Cubells, Joseph, Fu, Fiona, Campbell, Linda E., Fritsch, Rosemarie, Vergaelen, Elfi, Neeleman, Marjolein, Boot, Erik, Debbané, Martin, Philip, Nicole, Green, Tamar, Van DenBree, Marianne B M, Murphy, Declan, Canyelles, Jaume Morey, Arango, Celso, Murphy, Kieran C., and Pontillo, Maria

Published
2015

45. Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis

Author

Riethmuller, Christoph, McAleer, Maeve A., Koppes, Sjors A., Abdayem, Rawad, Franz, Jonas, Haftek, Marek, Campbell, Linda E., MacCallum, Stephanie F., McLean, W.H. Irwin, Irvine, Alan D., Kezic, Sanja, Graduate School, APH - Amsterdam Public Health, and Coronel Institute of Occupational Health

Subjects
filaggrin, atopic dermatitis, corneocyte, Immunology, transepidermal water loss, Immunology and Allergy, Skin barrier
Abstract

BackgroundLoss-of-function (LOF) mutations in the filaggrin gene (FLG) are a well-replicated risk factor for atopic dermatitis (AD) and are known to cause an epidermal barrier defect. The nature of this barrier defect is not fully understood. Patients with AD with FLG LOF mutations are known to have more persistent disease, more severe disease, and greater risk of food allergies and eczema herpeticum. Abnormalities in corneocyte morphology have been observed in patients with AD, including prominent villus-like projections (VP); however, these ultrastructural features have not been systematically studied in patients with AD in relation to FLG genotype and acute and convalescent status.ObjectiveWe sought to quantitatively explore the relationship between FLG genotype, filaggrin breakdown products (natural moisturizing factor [NMF]), and corneocyte morphology in patients with AD.MethodsWe studied 15 children at first presentation of AD and after 6 weeks of standard therapy. We applied atomic force microscopy to study corneocyte conformation in patients with AD stratified by FLG status and NMF level. By using a new quantitative methodology, the number of VPs per investigated corneocyte area was assessed and expressed as the Dermal Texture Index score. Corneocytes were also labeled with an anti-corneodesmosin antibody and visualized with scanning electron microscopy.ResultsWe found a strong correlation between NMF levels and Dermal Texture Index scores in both acute and convalescent states (respective r = −0.80 and −0.75, P

Published
2015
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46. Social Dysfunction and Diet Outcomes in People with Psychosis.

Author

Mucheru, Doreen, Hanlon, Mary-Claire, MacDonald-Wicks, Lesley, McEvoy, Mark, and Campbell, Linda E.

Abstract

This analysis aimed to examine the association of social dysfunction with food security status, fruit intake, vegetable intake, meal frequency and breakfast consumption in people with psychosis from the Hunter New England (HNE) catchment site of the Survey of High Impact Psychosis (SHIP). Social dysfunction and dietary information were collected using standardised tools. Independent binary logistic regressions were used to examine the association between social dysfunction and food security status, fruit intake, vegetable intake, meal frequency and breakfast consumption. Although social dysfunction did not have a statistically significant association with most diet variables, participants with obvious to severe social dysfunction were 0.872 (95% CI (0.778, 0.976)) less likely to eat breakfast than those with no social dysfunction p < 0.05. Participants with social dysfunction were therefore, 13% less likely to have breakfast. This paper highlights high rates of social dysfunction, significant food insecurity, and intakes of fruits and vegetables below recommendations in people with psychosis. In light of this, a greater focus needs to be given to dietary behaviours and social dysfunction in lifestyle interventions delivered to people with psychosis. Well-designed observational research is also needed to further examine the relationship between social dysfunction and dietary behaviour in people with psychosis. [ABSTRACT FROM AUTHOR]

Published
2017
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47. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Author

Tsoi, Lam C, Spain, Sarah L, Knight, Jo, Ellinghaus, Eva, Stuart, Philip E, Capon, Francesca, Ding, Jun, Li, Yanming, Tejasvi, Trilokraj, Gudjonsson, Johann E, Kang, Hyun M, Allen, Michael H, McManus, Ross, Novelli, Giuseppe, Samuelsson, Lena, Schalkwijk, Joost, Ståhle, Mona, Burden, A David, Smith, Catherine H, Cork, Michael J, Estivill, Xavier, Bowcock, Anne M, Krueger, Gerald G, Weger, Wolfgang, Worthington, Jane, Tazi-Ahnini, Rachid, Nestle, Frank O, Hayday, Adrian, Hoffmann, Per, Winkelmann, Juliane, Wijmenga, Cisca, Langford, Cordelia, Edkins, Sarah, Andrews, Robert, Blackburn, Hannah, Strange, Amy, Band, Gavin, Pearson, Richard D, Vukcevic, Damjan, Spencer, Chris C A, Deloukas, Panos, Mrowietz, Ulrich, Schreiber, Stefan, Weidinger, Stephan, Koks, Sulev, Kingo, Külli, Esko, Tonu, Metspalu, Andres, Lim, Henry W, Voorhees, John J, Weichenthal, Michael, Wichmann, H Erich, Chandran, Vinod, Rosen, Cheryl F, Rahman, Proton, Gladman, Dafna D, Griffiths, Christopher E M, Reis, Andre, Kere, Juha, Duffin, Kristina Callis, Helms, Cindy, Goldgar, David, Li, Yun, Paschall, Justin, Malloy, Mary J, Pullinger, Clive R, Kane, John P, Gardner, Jennifer, Perlmutter, Amy, Miner, Andrew, Feng, Bing Jian, Hiremagalore, Ravi, Ike, Robert W, Christophers, Enno, Henseler, Tilo, Ruether, Andreas, Schrodi, Steven J, Prahalad, Sampath, Guthery, Stephen L, Fischer, Judith, Liao, Wilson, Kwok, Pui, Menter, Alan, Lathrop, G Mark, Wise, C, Begovich, Ann B, Onoufriadis, Alexandros, Weale, Michael E, Hofer, Angelika, Salmhofer, Wolfgang, Wolf, Peter, Kainu, Kati, Saarialho-Kere, Ulpu, Suomela, Sari, Badorf, Petra, Hüffmeier, Ulrike, Kurrat, Werner, Küster, Wolfgang, Lascorz, Jesús, Mössner, Rotraut, Schürmeier-Horst, Funda, Ständer, Markward, Traupe, Heiko, Bergboer, Judith G M, Heijer, Martin den, van de Kerkhof, Peter C, Zeeuwen, Patrick L J M, Barnes, Louise, Campbell, Linda E, Cusack, Caitriona, Coleman, Ciara, Conroy, Judith, Ennis, Sean, Fitzgerald, Oliver, Gallagher, Phil, Irvine, Alan D, Kirby, Brian, Markham, Trevor, McLean, W H Irwin, McPartlin, Joe, Rogers, Sarah F, Ryan, Anthony W, Zawirska, Agnieszka, Giardina, Emiliano, Lepre, Tiziana, Perricone, Carlo, Martín-Ezquerra, Gemma, Pujol, Ramon M, Riveira-Munoz, Eva, Inerot, Annica, Naluai, Åsa T, Mallbris, Lotus, Wolk, Katarina, Leman, Joyce, Barton, Anne, Warren, Richard B, Young, Helen S, Ricano-Ponce, Isis, Trynka, Gosia, Pellett, Fawnda J, Henschel, Andrew, Aurand, Marin, Bebo, Bruce, Gieger, Christian, Illig, Thomas, Moebus, Susanne, Jöckel, Karl-Heinz, Erbel, Raimund, Donnelly, Peter, Peltonen, Leena, Blackwell, Jenefer M, Bramon, Elvira, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Craddock, Nicholas, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, McCarthy, Mark I, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Samani, Nilesh, Viswanathan, Ananth C, Wood, Nicholas W, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Su, Zhan, Hunt, Sarah E, Gwilliam, Rhian, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Perez, Marc L, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Nair, Rajan P, Franke, Andre, Barker, Jonathan N W N, Abecasis, Goncalo R, Elder, James T, Trembath, Richard C, Tsoi, Lam C, Spain, Sarah L, Knight, Jo, Ellinghaus, Eva, Stuart, Philip E, Capon, Francesca, Ding, Jun, Li, Yanming, Tejasvi, Trilokraj, Gudjonsson, Johann E, Kang, Hyun M, Allen, Michael H, McManus, Ross, Novelli, Giuseppe, Samuelsson, Lena, Schalkwijk, Joost, Ståhle, Mona, Burden, A David, Smith, Catherine H, Cork, Michael J, Estivill, Xavier, Bowcock, Anne M, Krueger, Gerald G, Weger, Wolfgang, Worthington, Jane, Tazi-Ahnini, Rachid, Nestle, Frank O, Hayday, Adrian, Hoffmann, Per, Winkelmann, Juliane, Wijmenga, Cisca, Langford, Cordelia, Edkins, Sarah, Andrews, Robert, Blackburn, Hannah, Strange, Amy, Band, Gavin, Pearson, Richard D, Vukcevic, Damjan, Spencer, Chris C A, Deloukas, Panos, Mrowietz, Ulrich, Schreiber, Stefan, Weidinger, Stephan, Koks, Sulev, Kingo, Külli, Esko, Tonu, Metspalu, Andres, Lim, Henry W, Voorhees, John J, Weichenthal, Michael, Wichmann, H Erich, Chandran, Vinod, Rosen, Cheryl F, Rahman, Proton, Gladman, Dafna D, Griffiths, Christopher E M, Reis, Andre, Kere, Juha, Duffin, Kristina Callis, Helms, Cindy, Goldgar, David, Li, Yun, Paschall, Justin, Malloy, Mary J, Pullinger, Clive R, Kane, John P, Gardner, Jennifer, Perlmutter, Amy, Miner, Andrew, Feng, Bing Jian, Hiremagalore, Ravi, Ike, Robert W, Christophers, Enno, Henseler, Tilo, Ruether, Andreas, Schrodi, Steven J, Prahalad, Sampath, Guthery, Stephen L, Fischer, Judith, Liao, Wilson, Kwok, Pui, Menter, Alan, Lathrop, G Mark, Wise, C, Begovich, Ann B, Onoufriadis, Alexandros, Weale, Michael E, Hofer, Angelika, Salmhofer, Wolfgang, Wolf, Peter, Kainu, Kati, Saarialho-Kere, Ulpu, Suomela, Sari, Badorf, Petra, Hüffmeier, Ulrike, Kurrat, Werner, Küster, Wolfgang, Lascorz, Jesús, Mössner, Rotraut, Schürmeier-Horst, Funda, Ständer, Markward, Traupe, Heiko, Bergboer, Judith G M, Heijer, Martin den, van de Kerkhof, Peter C, Zeeuwen, Patrick L J M, Barnes, Louise, Campbell, Linda E, Cusack, Caitriona, Coleman, Ciara, Conroy, Judith, Ennis, Sean, Fitzgerald, Oliver, Gallagher, Phil, Irvine, Alan D, Kirby, Brian, Markham, Trevor, McLean, W H Irwin, McPartlin, Joe, Rogers, Sarah F, Ryan, Anthony W, Zawirska, Agnieszka, Giardina, Emiliano, Lepre, Tiziana, Perricone, Carlo, Martín-Ezquerra, Gemma, Pujol, Ramon M, Riveira-Munoz, Eva, Inerot, Annica, Naluai, Åsa T, Mallbris, Lotus, Wolk, Katarina, Leman, Joyce, Barton, Anne, Warren, Richard B, Young, Helen S, Ricano-Ponce, Isis, Trynka, Gosia, Pellett, Fawnda J, Henschel, Andrew, Aurand, Marin, Bebo, Bruce, Gieger, Christian, Illig, Thomas, Moebus, Susanne, Jöckel, Karl-Heinz, Erbel, Raimund, Donnelly, Peter, Peltonen, Leena, Blackwell, Jenefer M, Bramon, Elvira, Brown, Matthew A, Casas, Juan P, Corvin, Aiden, Craddock, Nicholas, Duncanson, Audrey, Jankowski, Janusz, Markus, Hugh S, Mathew, Christopher G, McCarthy, Mark I, Palmer, Colin N A, Plomin, Robert, Rautanen, Anna, Sawcer, Stephen J, Samani, Nilesh, Viswanathan, Ananth C, Wood, Nicholas W, Bellenguez, Céline, Freeman, Colin, Hellenthal, Garrett, Giannoulatou, Eleni, Pirinen, Matti, Su, Zhan, Hunt, Sarah E, Gwilliam, Rhian, Bumpstead, Suzannah J, Dronov, Serge, Gillman, Matthew, Gray, Emma, Hammond, Naomi, Jayakumar, Alagurevathi, McCann, Owen T, Liddle, Jennifer, Perez, Marc L, Potter, Simon C, Ravindrarajah, Radhi, Ricketts, Michelle, Waller, Matthew, Weston, Paul, Widaa, Sara, Whittaker, Pamela, Nair, Rajan P, Franke, Andre, Barker, Jonathan N W N, Abecasis, Goncalo R, Elder, James T, and Trembath, Richard C

Abstract

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2 independent data sets genotyped on the Immunochip, including 10,588 cases and 22,806 controls. We identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals. We also identified, using conditional analyses, five independent signals within previously known loci. The newly identified loci shared with other autoimmune diseases include candidate genes with roles in regulating T-cell function (such as RUNX3, TAGAP and STAT3). Notably, they included candidate genes whose products are involved in innate host defense, including interferon-mediated antiviral responses (DDX58), macrophage activation (ZC3H12C) and nuclear factor (NF)-κB signaling (CARD14 and CARM1). These results portend a better understanding of shared and distinctive genetic determinants of immune-mediated inflammatory disorders and emphasize the importance of the skin in innate and acquired host defense.

Published
2012

49. Generation and Characterisation of Keratin 7 (K7) Knockout Mice

Author

Sandilands, Aileen, primary, Smith, Frances J. D., additional, Lunny, Declan P., additional, Campbell, Linda E., additional, Davidson, Kirsty M., additional, MacCallum, Stephanie F., additional, Corden, Laura D., additional, Christie, Lesley, additional, Fleming, Stewart, additional, Lane, E. Birgitte, additional, and McLean, W. H. Irwin, additional

Published
2013
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