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1. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Author

Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Yu Yang, Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., Mcginn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, Stefano, Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M., Bena, F. S., Antshel, K. M., Fremont, W., Kates, W. R., Belzeaux, R., Busa, T., Philip, N., Campbell, L. E., Mccabe, K. L., Hooper, S. R., Schoch, K., Shashi, V., Simon, T. J., Tassone, F., Arango, C., Fraguas, D., Garcia-Minaur, S., Morey-Canyelles, J., Rosell, J., Suner, D. H., Raventos-Simic, J., Epstein, M. P., Williams, N. M., Bassett, A. S., Zhao Y., Vicari S. (ORCID:0000-0002-5395-2262), Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Yu Yang, Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., Mcginn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, Stefano, Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M., Bena, F. S., Antshel, K. M., Fremont, W., Kates, W. R., Belzeaux, R., Busa, T., Philip, N., Campbell, L. E., Mccabe, K. L., Hooper, S. R., Schoch, K., Shashi, V., Simon, T. J., Tassone, F., Arango, C., Fraguas, D., Garcia-Minaur, S., Morey-Canyelles, J., Rosell, J., Suner, D. H., Raventos-Simic, J., Epstein, M. P., Williams, N. M., Bassett, A. S., Zhao Y., and Vicari S. (ORCID:0000-0002-5395-2262)

Abstract

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10−6). Novel reciprocal case–control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.

Published
2020

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

Author

Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., Morrow, B. E., McDonald-McGinn, D. M., Swillen, A., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., van Amelsvoort, T., Arango, C., Armando, M., Campbell, L. E., Cubells, J. F., Eliez, S., Garcia-Minaur, S., Gothelf, D., Kates, W. R., Murphy, K. C., Murphy, C. M., Murphy, D. G., Philip, N., Repetto, G. M., Shashi, V., Simon, T. J., Suner, D. H., Vicari, Stefano, Scherer, S. W., Epstein, M. P., Warren, S. T., Morrison, S., Chawner, S., Vingerhoets, C., Breckpot, J., Vergaelen, E., Vogels, A., Monks, S., Prasad, S. E., Sandini, C., Schneider, M., Maeder, J., Fraguas, D., Evers, R., Tassone, F., Morey-Canyelles, J., Ousley, O. Y., Antshel, K. M., Fremont, W., Fritsch, R., Ornstein, C., Daly, E. M., Costain, G. A., Boot, E., Heung, T., Crowley, T. B., Zackai, E. H., Calkins, M. E., Gur, R. C., Mccabe, K. L., Busa, T., Schoch, K., Pontillo, M., Duijff, S. N., Kahn, R. S., Houben, Mariasofia, Kushan, L., Jalbrzikowski, M., Carmel, M., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Bearden, C. E., Vorstman, J. A. S., Vicari S. (ORCID:0000-0002-5395-2262), Houben M. (ORCID:0000-0002-8955-6691), Davies, R. W., Fiksinski, A. M., Breetvelt, E. J., Williams, N. M., Hooper, S. R., Monfeuga, T., Bassett, A. S., Owen, M. J., Gur, R. E., Morrow, B. E., McDonald-McGinn, D. M., Swillen, A., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., van Amelsvoort, T., Arango, C., Armando, M., Campbell, L. E., Cubells, J. F., Eliez, S., Garcia-Minaur, S., Gothelf, D., Kates, W. R., Murphy, K. C., Murphy, C. M., Murphy, D. G., Philip, N., Repetto, G. M., Shashi, V., Simon, T. J., Suner, D. H., Vicari, Stefano, Scherer, S. W., Epstein, M. P., Warren, S. T., Morrison, S., Chawner, S., Vingerhoets, C., Breckpot, J., Vergaelen, E., Vogels, A., Monks, S., Prasad, S. E., Sandini, C., Schneider, M., Maeder, J., Fraguas, D., Evers, R., Tassone, F., Morey-Canyelles, J., Ousley, O. Y., Antshel, K. M., Fremont, W., Fritsch, R., Ornstein, C., Daly, E. M., Costain, G. A., Boot, E., Heung, T., Crowley, T. B., Zackai, E. H., Calkins, M. E., Gur, R. C., Mccabe, K. L., Busa, T., Schoch, K., Pontillo, M., Duijff, S. N., Kahn, R. S., Houben, Mariasofia, Kushan, L., Jalbrzikowski, M., Carmel, M., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Bearden, C. E., Vorstman, J. A. S., Vicari S. (ORCID:0000-0002-5395-2262), and Houben M. (ORCID:0000-0002-8955-6691)

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

Author

Vorstman, J. A. S., Breetvelt, E. J., Duijff, S. N., Eliez, S., Schneider, M., Jalbrzikowski, M., Armando, M., Vicari, S., Shashi, V., Hooper, S. R., Chow, E. W. C., Fung, W. L. A., Butcher, N. J., Young, D. A., McDonald-McGinn, D. M., Vogels, A., Van Amelsvoort, T., Gothelf, D., Weinberger, R., Weizman, A., Klaassen, P. W. J., Koops, S., Kates, W. R., Antshel, K. M., Simon, T. J., Ousley, O. Y., Swillen, A., Gur, R. E., Bearden, C. E., Kahn, R. S., Bassett, A. S., Emanuel, B. S., Zackai, E. H., Kushan, L., Fremont, W., Schoch, K., Stoddard, J., Cubells, J., Fu, F., Campbell, L. E., Fritsch, R., Vergaelen, E., Neeleman, M., Boot, E., Debbane, M., Philip, N., Green, T., Van DenBree, M. B. M., Murphy, D., Canyelles, J. M., Arango, C., Murphy, K. C., Pontillo, M., Vicari S. (ORCID:0000-0002-5395-2262), Vorstman, J. A. S., Breetvelt, E. J., Duijff, S. N., Eliez, S., Schneider, M., Jalbrzikowski, M., Armando, M., Vicari, S., Shashi, V., Hooper, S. R., Chow, E. W. C., Fung, W. L. A., Butcher, N. J., Young, D. A., McDonald-McGinn, D. M., Vogels, A., Van Amelsvoort, T., Gothelf, D., Weinberger, R., Weizman, A., Klaassen, P. W. J., Koops, S., Kates, W. R., Antshel, K. M., Simon, T. J., Ousley, O. Y., Swillen, A., Gur, R. E., Bearden, C. E., Kahn, R. S., Bassett, A. S., Emanuel, B. S., Zackai, E. H., Kushan, L., Fremont, W., Schoch, K., Stoddard, J., Cubells, J., Fu, F., Campbell, L. E., Fritsch, R., Vergaelen, E., Neeleman, M., Boot, E., Debbane, M., Philip, N., Green, T., Van DenBree, M. B. M., Murphy, D., Canyelles, J. M., Arango, C., Murphy, K. C., Pontillo, M., and Vicari S. (ORCID:0000-0002-5395-2262)

Abstract

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 r

Published
2015

4. 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, M., Debbane, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., Van Den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., Antshel, K. M., Fremont, W., McDonald-McGinn, D. M., Gur, R. E., Zackai, E. H., Vorstman, J., Duijff, S. N., Klaassen, P. W. J., Swillen, A., Gothelf, D., Green, T., Weizman, A., Van Amelsvoort, T., Evers, L., Boot, E., Shashi, V., Hooper, S. R., Bearden, C. E., Jalbrzikowski, M., Armando, M., Vicari, Stefano, Murphy, D. G., Ousley, O., Campbell, L. E., Simon, T. J., Eliez, S., Vicari S. (ORCID:0000-0002-5395-2262), Schneider, M., Debbane, M., Bassett, A. S., Chow, E. W. C., Fung, W. L. A., Van Den Bree, M. B. M., Owen, M., Murphy, K. C., Niarchou, M., Kates, W. R., Antshel, K. M., Fremont, W., McDonald-McGinn, D. M., Gur, R. E., Zackai, E. H., Vorstman, J., Duijff, S. N., Klaassen, P. W. J., Swillen, A., Gothelf, D., Green, T., Weizman, A., Van Amelsvoort, T., Evers, L., Boot, E., Shashi, V., Hooper, S. R., Bearden, C. E., Jalbrzikowski, M., Armando, M., Vicari, Stefano, Murphy, D. G., Ousley, O., Campbell, L. E., Simon, T. J., Eliez, S., and Vicari S. (ORCID:0000-0002-5395-2262)

Abstract

Objective: Chromosome 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. Method: The 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. Results: Attention 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 over-represented 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. Conclusions: To 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

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