Browsing by Author "Sun, Daqiang"

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    Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs
    (2022) Sønderby, Ida; Ching, Christopher; Thomopoulos, Sophia; Van der Meer, Dennis; Sun, Daqiang; Villalon, Julio; Agartz, Ingrid; Amunts, Katrin; Arango, Celso; Armstrong, Nicola; Ayesa, Rosa; Bakker, Geor; Bassett, Anne; Boomsma, Dorret; Bülow, Robin; Butcher, Nancy; Calhoun, Vince; Caspers, Svenja; Chow, Eva; Cichon, Sven; Ciufolini, Simone; Craig, Michael; Crespo, Benedicto; Cunningham, Adam; Dale, Ander; Dazzan, Paola; De Zubicaray, Greig; Djurovic, Srdjan; Doherty, Joanne; Donohoe, Gary; Draganski, Bogdan; Durdle, Courtney; Ehrlich, Stefan; Emanuel, Beverly; Espeseth, Thomas; Fisher, Simon; Ge, Tian; Glahn, David; Grabe, Hans; Gur, Raquel
    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.
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    Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness
    (2020) Ching, Christopher R.K.; 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; Amelsvoort, Therese van; 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, Blaine; Emanuel, Beverly S.; Gur, Raquel E.; McDonald-McGinn, Donna M.; Roalf, David R.; Ruparel, Kosha; Schmitt, J. Eric; Zackaile, Elaine H.; Durdle, Courtney A.; Goodrich-Hunsaker, Naomi J.; Simon, Tony J.; Bassett, Anne S.; Butcher, Nancy J.; Chow, Eva W.C.; Vila-Rodriguez, Fidel; Cunningham, Adam; Doherty, Joanne; Linden, David E.; Moss, Hayley; Owen, Michael J.; Bree, Marianne van den; Crossley, Nicolas A.; Repetto, Gabriela; Thompson, Paul M.; Bearden, Carrie E.
    Objective: 22q11.2 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. Methods: Subcortical 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). Results: Compared 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, 20.90 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, 20.91 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. Conclusions: In 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.

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