Cited by 223Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatmentGenetic Associations and Epidemiology

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Microdeletions of 3q29 Confer High Risk for Schizophrenia

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Mulle, Jennifer Gladys, Dodd, Anne F., McGrath, John A., Wolyniec, Paula S., Mitchell, Adele A., Shetty, Amol C., Sobreira, Nara L., Valle, David, Rudd, M. Katharine, Satten, Glen, Cutler, David J., Pulver, Ann E., Warren, Stephen T.·2010·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2010.07.013PMC PMC2917706

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Abstract

Schizophrenia (SZ) is a severe psychiatric illness that affects approximately 1% of the population and has a strong genetic underpinning. Recently, genome-wide analysis of copy-number variation (CNV) has implicated rare and de novo events as important in SZ. Here, we report a genome-wide analysis of 245 SZ cases and 490 controls, all of Ashkenazi Jewish descent. Because many studies have found an excess burden of large, rare deletions in cases, we limited our analysis to deletions over 500 kb in size. We observed seven large, rare deletions in cases, with 57% of these being de novo. We focused on one 836 kb de novo deletion at chromosome 3q29 that falls within a 1.3-1.6 Mb deletion previously identified in children with intellectual disability (ID) and autism, because increasing evidence suggests an overlap of specific rare copy-number variants (CNVs) between autism and SZ. By combining our data with prior CNV studies of SZ and analysis of the data of the Genetic Association Information Network (GAIN), we identified six 3q29 deletions among 7545 schizophrenic subjects and one among 39,748 controls, resulting in a statistically significant association with SZ (p = 0.02) and an odds ratio estimate of 17 (95% confidence interval: 1.36-1198.4). Moreover, this 3q29 deletion region contains two linkage peaks from prior SZ family studies, and the minimal deletion interval implicates 20 annotated genes, including PAK2 and DLG1, both paralogous to X-linked ID genes and now strong candidates for SZ susceptibility.

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Categorical Data Analysis
Hapeman, D. E., & Agresti, A. (1991) · Technometrics · doi:10.1080/00401706.1991.10484817 · Cited by 9,407
Categorical Data Analysis
Agresti, A. (2002) · Wiley Series in Probability and Statistics · doi:10.1002/0471249688 · Cited by 6,746
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745
Common variants conferring risk of schizophrenia
†Genetic Risk and Outcome in Psychosis (GROUP), Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., Werge, T., Pietiläinen, O. P. H., Mors, O., et al. (2009) · Nature · doi:10.1038/nature08186 · Cited by 1,677
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475
Common variants on chromosome 6p22.1 are associated with schizophrenia
Shi, J., Levinson, D. F., Duan, J., Sanders, A. R., Zheng, Y., Pe’er, I., Dudbridge, F., Holmans, P., Whittemore, A. S., Mowry, B. J., et al. (2009) · Nature · doi:10.1038/nature08192 · Cited by 1,179
Schizophrenia: The epigenetic puzzle
Haier, R. J. (1982) · Psychiatry Research · doi:10.1016/0165-1781(92)90099-o · Cited by 1,171
Categorical Data Analysis
Hapeman, D. E., & Agresti, A. (1991) · Technometrics · doi:10.2307/1269056 · Cited by 814

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Melhem, N., Middleton, F. A., McFadden, K. A., Klei, L., Faraone, S. V., Vinogradov, S., Tiobech, J., Yano, V. M., Kuartei, S. J., Roeder, K., et al. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.08.009 · Cited by 36
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Pollak, R. M., Burrell, T. L., Cubells, J. F., Klaiman, C., Murphy, M. M., Saulnier, C. A., Walker, E. F., White, S. P., & Mulle, J. G. (2023) · medRxiv · doi:10.1101/2023.03.31.23288022 · Cited by 1
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Hannon, E. J. (2013) · ORCA Online Research @Cardiff (Cardiff University)
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Swaminathan, S. (2013) · IUScholarWorks (Indiana University) · doi:10.7912/c2/1949
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Rudd, D. S. (2014) · doi:10.17077/etd.ezs0wnfu
Segmental Duplications: A Source of Diversity, Evolution and Disease
Catacchio, C. R., Chiatante, G., Anaclerio, F., & Ventura, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0020838.pub2

Authors: Mulle, J. G., Dodd, A. F., McGrath, J. A., Wolyniec, P. S., Mitchell, A. A., Shetty, A. C., Sobreira, N. L., Valle, D., Rudd, M. K., Satten, G., Cutler, D. J., Pulver, A. E., & Warren, S. T.
Affiliations: Emory University (US)
Johns Hopkins University (US)
Icahn School of Medicine at Mount Sinai (US)
Centers for Disease Control and Prevention (US)
Corresponding author: Mulle, Jennifer Gladys
Warren, Stephen T.
ORCID: Mulle, Jennifer Gladys
McGrath, John A.
Shetty, Amol C.
Sobreira, Nara L.
Valle, David
Rudd, M. Katharine
Satten, Glen
Cutler, David J.
Warren, Stephen T.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2010-08
Volume: 87
Issue: 2
Pages: 229-236
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2010.07.013
PMC: PMC2917706
OpenAlex: W2094942174
Cited by: 223
References: 46
Citations by year: 2026: 8 · 2025: 4 · 2024: 8 · 2023: 10 · 2022: 5 · 2021: 9 · 2020: 9 · 2019: 8 · 2018: 15 · 2017: 12 · 2016: 9 · 2015: 19 · 2014: 16 · 2013: 31 · 2012: 30
FWCI: 16.39
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1083 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Institute of Mental Health (F32MH080583, R01MH080129, R01MH083722)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (F31HD068133)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: schizophrenia, copy number variation, de novo deletion, Ashkenazi Jews, genetic susceptibility, PAK2, DLG1, intellectual disability, autism spectrum disorder
MeSH terms: Chromosomes, Human, Pair 3, Humans, Schizophrenia, Reproducibility of Results, Case-Control Studies, Sequence Deletion, Genetic Predisposition to Disease, Base Pairing, Physical Chromosome Mapping, Young Adult, Genetic Loci, DNA Copy Number Variations

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Microdeletions of 3q29 Confer High Risk for Schizophrenia

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