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A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder
Schizophrenia (SZ) and bipolar disorder (BD) are known to share genetic risks. In this work, we conducted whole-genome scanning to identify cross-disorder and disorder-specific copy number variants (CNVs) for these two disorders. The Database of Genotypes and Phenotypes (dbGaP) data were used for di...
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| Published in: | Translational psychiatry 2016-05, Vol.6 (5), p.e824-e824 |
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| creator | Chen, J Calhoun, V D Perrone-Bizzozero, N I Pearlson, G D Sui, J Du, Y Liu, J |
| description | Schizophrenia (SZ) and bipolar disorder (BD) are known to share genetic risks. In this work, we conducted whole-genome scanning to identify cross-disorder and disorder-specific copy number variants (CNVs) for these two disorders. The Database of Genotypes and Phenotypes (dbGaP) data were used for discovery, deriving from 2416 SZ patients, 592 BD patients and 2393 controls of European Ancestry, as well as 998 SZ patients, 121 BD patients and 822 controls of African Ancestry. PennCNV and Birdsuite detected high-confidence CNVs that were aggregated into CNV regions (CNVRs) and compared with the database of genomic variants for confirmation. Then, large (size⩾500 kb) and small common CNVRs (size |
| doi_str_mv | 10.1038/tp.2016.96 |
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GPRIN2
) associated more with BD. Disorder-specific CNVRs were also found. The 22q11.21 CNVR (
COMT
) and small CNVRs in 11p15.4 (
TRIM5
) and 15q13.2 (
ARHGAP11B
and
FAN1
) appeared to be SZ-specific. CNVRs in 17q21.2, 9p21.3 and 9q21.13 might be BD-specific. Overall, our primary findings in individual disorders largely echo previous reports. In addition, the comparison between SZ and BD reveals both specific and common risk CNVs. Particularly for the latter, differential involvement is noted, motivating further comparative studies and quantitative models.</description><identifier>ISSN: 2158-3188</identifier><identifier>EISSN: 2158-3188</identifier><identifier>DOI: 10.1038/tp.2016.96</identifier><identifier>PMID: 27244233</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>45/43 ; 692/699/476/1333 ; 692/699/476/1799 ; Adult ; Behavioral Sciences ; Biological Psychology ; Bipolar Disorder - genetics ; Bipolar Disorder - psychology ; DNA Copy Number Variations - genetics ; Female ; Genetic Predisposition to Disease - genetics ; Genome-Wide Association Study ; Genotype ; Humans ; Male ; Medicine ; Medicine & Public Health ; Neurosciences ; Original ; original-article ; Pharmacotherapy ; Phenotype ; Pilot Projects ; Polymorphism, Single Nucleotide - genetics ; Psychiatry ; Schizophrenia - genetics ; Schizophrenic Psychology ; Sensitivity and Specificity</subject><ispartof>Translational psychiatry, 2016-05, Vol.6 (5), p.e824-e824</ispartof><rights>The Author(s) 2016</rights><rights>Copyright Nature Publishing Group May 2016</rights><rights>Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c508t-6dce748e26dffbea46a77bf5c9a465938015611b39cd9401b2a69583c34706483</citedby><cites>FETCH-LOGICAL-c508t-6dce748e26dffbea46a77bf5c9a465938015611b39cd9401b2a69583c34706483</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/1792819743/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1792819743?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27244233$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chen, J</creatorcontrib><creatorcontrib>Calhoun, V D</creatorcontrib><creatorcontrib>Perrone-Bizzozero, N I</creatorcontrib><creatorcontrib>Pearlson, G D</creatorcontrib><creatorcontrib>Sui, J</creatorcontrib><creatorcontrib>Du, Y</creatorcontrib><creatorcontrib>Liu, J</creatorcontrib><title>A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder</title><title>Translational psychiatry</title><addtitle>Transl Psychiatry</addtitle><addtitle>Transl Psychiatry</addtitle><description>Schizophrenia (SZ) and bipolar disorder (BD) are known to share genetic risks. In this work, we conducted whole-genome scanning to identify cross-disorder and disorder-specific copy number variants (CNVs) for these two disorders. The Database of Genotypes and Phenotypes (dbGaP) data were used for discovery, deriving from 2416 SZ patients, 592 BD patients and 2393 controls of European Ancestry, as well as 998 SZ patients, 121 BD patients and 822 controls of African Ancestry. PennCNV and Birdsuite detected high-confidence CNVs that were aggregated into CNV regions (CNVRs) and compared with the database of genomic variants for confirmation. Then, large (size⩾500 kb) and small common CNVRs (size <500 kb, frequency⩾1%) were examined for their associations with SZ and BD. Particularly for the European Ancestry samples, the dbGaP findings were further evaluated in the Wellcome Trust Case Control Consortium (WTCCC) data set for replication. Previously implicated variants (1q21.1, 15q13.3, 16p11.2 and 22q11.21) were replicated. Some cross-disorder variants were noted to differentially affect SZ and BD, including CNVRs in chromosomal regions encoding immunoglobulins and T-cell receptors that were associated more with SZ, and the 10q11.21 small CNVR (
GPRIN2
) associated more with BD. Disorder-specific CNVRs were also found. The 22q11.21 CNVR (
COMT
) and small CNVRs in 11p15.4 (
TRIM5
) and 15q13.2 (
ARHGAP11B
and
FAN1
) appeared to be SZ-specific. CNVRs in 17q21.2, 9p21.3 and 9q21.13 might be BD-specific. Overall, our primary findings in individual disorders largely echo previous reports. In addition, the comparison between SZ and BD reveals both specific and common risk CNVs. Particularly for the latter, differential involvement is noted, motivating further comparative studies and quantitative models.</description><subject>45/43</subject><subject>692/699/476/1333</subject><subject>692/699/476/1799</subject><subject>Adult</subject><subject>Behavioral Sciences</subject><subject>Biological Psychology</subject><subject>Bipolar Disorder - genetics</subject><subject>Bipolar Disorder - psychology</subject><subject>DNA Copy Number Variations - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Neurosciences</subject><subject>Original</subject><subject>original-article</subject><subject>Pharmacotherapy</subject><subject>Phenotype</subject><subject>Pilot Projects</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Psychiatry</subject><subject>Schizophrenia - genetics</subject><subject>Schizophrenic Psychology</subject><subject>Sensitivity and Specificity</subject><issn>2158-3188</issn><issn>2158-3188</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNplkV1rHCEUhqU0NCHJTX9AEXpTWnar4_dNIYR-QSA36bU4jpN1mVGrTmD76-tm07BtvfEc3sf3HHwBeI3RGiMiP9a07hDma8VfgLMOM7kiWMqXR_UpuCxli9phVGKBX4HTTnSUdoScge0VTH6KFZa6DDsYA7RxnmMwk687aMIAS3LWj97u-zg2Oe1gWObeZfhgsjehFugDLHbjf8W0yS548_iw9ylOJsPBl5gHly_AyWim4i6f7nPw48vnu-tvq5vbr9-vr25WliFZV3ywTlDpOj6MY-8M5UaIfmRWtZIpIhFmHOOeKDsoinDfGa6YJJZQgTiV5Bx8OvimpZ9dcws1m0mn7GeTdzoar_9Wgt_o-_igGaOMM9wM3j0Z5PhzcaXq2RfrpskEF5eisVCEcXGY9fYfdBuX3H7vkeokVoKSRr0_UDbHUrIbn5fBSO9T1DXpfYpa8Qa_OV7_Gf2TWQM-HIDSpHDv8tHM_-1-A6Vip4k</recordid><startdate>20160531</startdate><enddate>20160531</enddate><creator>Chen, J</creator><creator>Calhoun, V D</creator><creator>Perrone-Bizzozero, N I</creator><creator>Pearlson, G D</creator><creator>Sui, J</creator><creator>Du, Y</creator><creator>Liu, J</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20160531</creationdate><title>A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder</title><author>Chen, J ; Calhoun, V D ; Perrone-Bizzozero, N I ; Pearlson, G D ; Sui, J ; Du, Y ; Liu, J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c508t-6dce748e26dffbea46a77bf5c9a465938015611b39cd9401b2a69583c34706483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>45/43</topic><topic>692/699/476/1333</topic><topic>692/699/476/1799</topic><topic>Adult</topic><topic>Behavioral Sciences</topic><topic>Biological Psychology</topic><topic>Bipolar Disorder - genetics</topic><topic>Bipolar Disorder - psychology</topic><topic>DNA Copy Number Variations - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genome-Wide Association Study</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Neurosciences</topic><topic>Original</topic><topic>original-article</topic><topic>Pharmacotherapy</topic><topic>Phenotype</topic><topic>Pilot Projects</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Psychiatry</topic><topic>Schizophrenia - genetics</topic><topic>Schizophrenic Psychology</topic><topic>Sensitivity and Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, J</creatorcontrib><creatorcontrib>Calhoun, V D</creatorcontrib><creatorcontrib>Perrone-Bizzozero, N I</creatorcontrib><creatorcontrib>Pearlson, G D</creatorcontrib><creatorcontrib>Sui, J</creatorcontrib><creatorcontrib>Du, Y</creatorcontrib><creatorcontrib>Liu, J</creatorcontrib><collection>Springer_OA刊</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>ProQuest - Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Translational psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, J</au><au>Calhoun, V D</au><au>Perrone-Bizzozero, N I</au><au>Pearlson, G D</au><au>Sui, J</au><au>Du, Y</au><au>Liu, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder</atitle><jtitle>Translational psychiatry</jtitle><stitle>Transl Psychiatry</stitle><addtitle>Transl Psychiatry</addtitle><date>2016-05-31</date><risdate>2016</risdate><volume>6</volume><issue>5</issue><spage>e824</spage><epage>e824</epage><pages>e824-e824</pages><issn>2158-3188</issn><eissn>2158-3188</eissn><abstract>Schizophrenia (SZ) and bipolar disorder (BD) are known to share genetic risks. In this work, we conducted whole-genome scanning to identify cross-disorder and disorder-specific copy number variants (CNVs) for these two disorders. The Database of Genotypes and Phenotypes (dbGaP) data were used for discovery, deriving from 2416 SZ patients, 592 BD patients and 2393 controls of European Ancestry, as well as 998 SZ patients, 121 BD patients and 822 controls of African Ancestry. PennCNV and Birdsuite detected high-confidence CNVs that were aggregated into CNV regions (CNVRs) and compared with the database of genomic variants for confirmation. Then, large (size⩾500 kb) and small common CNVRs (size <500 kb, frequency⩾1%) were examined for their associations with SZ and BD. Particularly for the European Ancestry samples, the dbGaP findings were further evaluated in the Wellcome Trust Case Control Consortium (WTCCC) data set for replication. Previously implicated variants (1q21.1, 15q13.3, 16p11.2 and 22q11.21) were replicated. Some cross-disorder variants were noted to differentially affect SZ and BD, including CNVRs in chromosomal regions encoding immunoglobulins and T-cell receptors that were associated more with SZ, and the 10q11.21 small CNVR (
GPRIN2
) associated more with BD. Disorder-specific CNVRs were also found. The 22q11.21 CNVR (
COMT
) and small CNVRs in 11p15.4 (
TRIM5
) and 15q13.2 (
ARHGAP11B
and
FAN1
) appeared to be SZ-specific. CNVRs in 17q21.2, 9p21.3 and 9q21.13 might be BD-specific. Overall, our primary findings in individual disorders largely echo previous reports. In addition, the comparison between SZ and BD reveals both specific and common risk CNVs. Particularly for the latter, differential involvement is noted, motivating further comparative studies and quantitative models.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>27244233</pmid><doi>10.1038/tp.2016.96</doi><oa>free_for_read</oa></addata></record> |
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| source | PubMed Central (Open Access); ProQuest - Publicly Available Content Database; Springer Nature - nature.com Journals - Fully Open Access |
| subjects | 45/43 692/699/476/1333 692/699/476/1799 Adult Behavioral Sciences Biological Psychology Bipolar Disorder - genetics Bipolar Disorder - psychology DNA Copy Number Variations - genetics Female Genetic Predisposition to Disease - genetics Genome-Wide Association Study Genotype Humans Male Medicine Medicine & Public Health Neurosciences Original original-article Pharmacotherapy Phenotype Pilot Projects Polymorphism, Single Nucleotide - genetics Psychiatry Schizophrenia - genetics Schizophrenic Psychology Sensitivity and Specificity |
| title | A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder |
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