Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy
The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial c...
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| creator | Lacey, Cameron J. Doudney, Kit Bridgman, Paul G. George, Peter M. Mulder, Roger T. Zarifeh, Julie J. Kimber, Bridget Cadzow, Murray J. Black, Michael A. Merriman, Tony R. Lehnert, Klaus Bickley, Vivienne M Pearson, John F. Cameron, Vicky A. Kennedy, Martin A. |
| description | The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011. To seek possible underlying genetic factors we carried out exome analysis, genotyping array analysis, and array comparative genomic hybridization on these subjects. The most striking finding was the observation of a markedly elevated rate of rare, heterogeneous copy number variants (CNV) of uncertain clinical significance (in 12/28 subjects). Several of these CNVs impacted on genes of cardiac relevance including
RBFOX1
,
GPC5
,
KCNRG
,
CHODL
, and
GPBP1L1
. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel perspective on this enigmatic condition. |
| doi_str_mv | 10.1038/s41598-018-25827-5 |
| format | Article |
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RBFOX1
,
GPC5
,
KCNRG
,
CHODL
, and
GPBP1L1
. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel perspective on this enigmatic condition.</description><identifier>ISSN: 2045-2322</identifier><identifier>EISSN: 2045-2322</identifier><identifier>DOI: 10.1038/s41598-018-25827-5</identifier><identifier>PMID: 29765130</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>45/23 ; 45/43 ; 45/61 ; 631/208/212/2301 ; 692/4019/592/2727 ; Cardiomyopathy ; Comparative Genomic Hybridization ; Copy number ; DNA Copy Number Variations ; Earthquakes ; Exome Sequencing ; Female ; Gene Regulatory Networks ; Genetic analysis ; Genetic factors ; Genetic Predisposition to Disease ; Genotyping ; Genotyping Techniques - methods ; Glypicans - genetics ; Heart ; Humanities and Social Sciences ; Humans ; Hybridization ; Lectins, C-Type - genetics ; Membrane Proteins - genetics ; multidisciplinary ; Natural disasters ; New Zealand ; Oligonucleotide Array Sequence Analysis ; Potassium Channels - genetics ; RNA Splicing Factors - genetics ; Science ; Science (multidisciplinary) ; Seismic activity ; Takotsubo Cardiomyopathy - genetics</subject><ispartof>Scientific reports, 2018-05, Vol.8 (1), p.7548-12, Article 7548</ispartof><rights>The Author(s) 2018</rights><rights>2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-4bfe0f7feb2ca0176712003a02c7c983022eefed61e2a4d682bf229184bea7303</citedby><cites>FETCH-LOGICAL-c474t-4bfe0f7feb2ca0176712003a02c7c983022eefed61e2a4d682bf229184bea7303</cites><orcidid>0000-0002-6445-8526</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954162/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954162/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,41096,42165,51551,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29765130$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lacey, Cameron J.</creatorcontrib><creatorcontrib>Doudney, Kit</creatorcontrib><creatorcontrib>Bridgman, Paul G.</creatorcontrib><creatorcontrib>George, Peter M.</creatorcontrib><creatorcontrib>Mulder, Roger T.</creatorcontrib><creatorcontrib>Zarifeh, Julie J.</creatorcontrib><creatorcontrib>Kimber, Bridget</creatorcontrib><creatorcontrib>Cadzow, Murray J.</creatorcontrib><creatorcontrib>Black, Michael A.</creatorcontrib><creatorcontrib>Merriman, Tony R.</creatorcontrib><creatorcontrib>Lehnert, Klaus</creatorcontrib><creatorcontrib>Bickley, Vivienne M</creatorcontrib><creatorcontrib>Pearson, John F.</creatorcontrib><creatorcontrib>Cameron, Vicky A.</creatorcontrib><creatorcontrib>Kennedy, Martin A.</creatorcontrib><title>Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy</title><title>Scientific reports</title><addtitle>Sci Rep</addtitle><addtitle>Sci Rep</addtitle><description>The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011. To seek possible underlying genetic factors we carried out exome analysis, genotyping array analysis, and array comparative genomic hybridization on these subjects. The most striking finding was the observation of a markedly elevated rate of rare, heterogeneous copy number variants (CNV) of uncertain clinical significance (in 12/28 subjects). Several of these CNVs impacted on genes of cardiac relevance including
RBFOX1
,
GPC5
,
KCNRG
,
CHODL
, and
GPBP1L1
. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel perspective on this enigmatic condition.</description><subject>45/23</subject><subject>45/43</subject><subject>45/61</subject><subject>631/208/212/2301</subject><subject>692/4019/592/2727</subject><subject>Cardiomyopathy</subject><subject>Comparative Genomic Hybridization</subject><subject>Copy number</subject><subject>DNA Copy Number Variations</subject><subject>Earthquakes</subject><subject>Exome Sequencing</subject><subject>Female</subject><subject>Gene Regulatory Networks</subject><subject>Genetic analysis</subject><subject>Genetic factors</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotyping</subject><subject>Genotyping Techniques - methods</subject><subject>Glypicans - genetics</subject><subject>Heart</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Hybridization</subject><subject>Lectins, C-Type - genetics</subject><subject>Membrane Proteins - genetics</subject><subject>multidisciplinary</subject><subject>Natural disasters</subject><subject>New Zealand</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Potassium Channels - genetics</subject><subject>RNA Splicing Factors - genetics</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>Seismic activity</subject><subject>Takotsubo Cardiomyopathy - genetics</subject><issn>2045-2322</issn><issn>2045-2322</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kUFv1DAQhSMEolXpH-CALHHhkmKP48S5IKEVUKRKXOBsOc6k65LYqe1slX-PtymlcMCXsTTfezOjVxSvGb1glMv3sWKilSVlsgQhoSnFs-IUaCVK4ADPn_xPivMYb2h-AtqKtS-LE2ibWjBOT4u08_NK3DJ1GMhBB6tdisRO82iNTkiMDr3VhgyLM8l6R7TrSY8HHP08oUtk1ml_p9escQR1SPvbRf_E0rp-MdiTmALGuNn4afVHfH1VvBj0GPH8oZ4VPz5_-r67LK--ffm6-3hVmqqpUll1A9KhGbADoylr6oYBpVxTMI1pJacAiAP2NUPQVV9L6AaAlsmqQ91wys-KD5vvvHQT9ibvG_So5mAnHVbltVV_d5zdq2t_UKIVFashG7x7MAj-dsGY1GSjwXHUDv0SFVDeSikFP6Jv_0Fv_BJcPu-egpqKtskUbJQJPsaAw-MyjKpjrmrLVeVc1X2uSmTRm6dnPEp-p5gBvgExt9w1hj-z_2P7Cys9sWI</recordid><startdate>20180515</startdate><enddate>20180515</enddate><creator>Lacey, Cameron J.</creator><creator>Doudney, Kit</creator><creator>Bridgman, Paul G.</creator><creator>George, Peter M.</creator><creator>Mulder, Roger T.</creator><creator>Zarifeh, Julie J.</creator><creator>Kimber, Bridget</creator><creator>Cadzow, Murray J.</creator><creator>Black, Michael A.</creator><creator>Merriman, Tony R.</creator><creator>Lehnert, Klaus</creator><creator>Bickley, Vivienne M</creator><creator>Pearson, John F.</creator><creator>Cameron, Vicky A.</creator><creator>Kennedy, Martin A.</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>88A</scope><scope>88E</scope><scope>88I</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-6445-8526</orcidid></search><sort><creationdate>20180515</creationdate><title>Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy</title><author>Lacey, Cameron J. ; Doudney, Kit ; Bridgman, Paul G. ; George, Peter M. ; Mulder, Roger T. ; Zarifeh, Julie J. ; Kimber, Bridget ; Cadzow, Murray J. ; Black, Michael A. ; Merriman, Tony R. ; Lehnert, Klaus ; Bickley, Vivienne M ; Pearson, John F. ; Cameron, Vicky A. ; Kennedy, Martin A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c474t-4bfe0f7feb2ca0176712003a02c7c983022eefed61e2a4d682bf229184bea7303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>45/23</topic><topic>45/43</topic><topic>45/61</topic><topic>631/208/212/2301</topic><topic>692/4019/592/2727</topic><topic>Cardiomyopathy</topic><topic>Comparative Genomic Hybridization</topic><topic>Copy number</topic><topic>DNA Copy Number Variations</topic><topic>Earthquakes</topic><topic>Exome Sequencing</topic><topic>Female</topic><topic>Gene Regulatory Networks</topic><topic>Genetic analysis</topic><topic>Genetic factors</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotyping</topic><topic>Genotyping Techniques - methods</topic><topic>Glypicans - genetics</topic><topic>Heart</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Hybridization</topic><topic>Lectins, C-Type - genetics</topic><topic>Membrane Proteins - genetics</topic><topic>multidisciplinary</topic><topic>Natural disasters</topic><topic>New Zealand</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Potassium Channels - genetics</topic><topic>RNA Splicing Factors - genetics</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><topic>Seismic activity</topic><topic>Takotsubo Cardiomyopathy - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lacey, Cameron J.</creatorcontrib><creatorcontrib>Doudney, Kit</creatorcontrib><creatorcontrib>Bridgman, Paul G.</creatorcontrib><creatorcontrib>George, Peter M.</creatorcontrib><creatorcontrib>Mulder, Roger T.</creatorcontrib><creatorcontrib>Zarifeh, Julie J.</creatorcontrib><creatorcontrib>Kimber, Bridget</creatorcontrib><creatorcontrib>Cadzow, Murray J.</creatorcontrib><creatorcontrib>Black, Michael A.</creatorcontrib><creatorcontrib>Merriman, Tony R.</creatorcontrib><creatorcontrib>Lehnert, Klaus</creatorcontrib><creatorcontrib>Bickley, Vivienne M</creatorcontrib><creatorcontrib>Pearson, John F.</creatorcontrib><creatorcontrib>Cameron, Vicky A.</creatorcontrib><creatorcontrib>Kennedy, Martin A.</creatorcontrib><collection>Springer Nature OA Free Journals</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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</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 Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</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 Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>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 Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Scientific reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lacey, Cameron J.</au><au>Doudney, Kit</au><au>Bridgman, Paul G.</au><au>George, Peter M.</au><au>Mulder, Roger T.</au><au>Zarifeh, Julie J.</au><au>Kimber, Bridget</au><au>Cadzow, Murray J.</au><au>Black, Michael A.</au><au>Merriman, Tony R.</au><au>Lehnert, Klaus</au><au>Bickley, Vivienne M</au><au>Pearson, John F.</au><au>Cameron, Vicky A.</au><au>Kennedy, Martin A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy</atitle><jtitle>Scientific reports</jtitle><stitle>Sci Rep</stitle><addtitle>Sci Rep</addtitle><date>2018-05-15</date><risdate>2018</risdate><volume>8</volume><issue>1</issue><spage>7548</spage><epage>12</epage><pages>7548-12</pages><artnum>7548</artnum><issn>2045-2322</issn><eissn>2045-2322</eissn><abstract>The pathophysiology of stress cardiomyopathy (SCM), also known as takotsubo syndrome, is poorly understood. SCM usually occurs sporadically, often in association with a stressful event, but clusters of cases are reported after major natural disasters. There is some evidence that this is a familial condition. We have examined three possible models for an underlying genetic predisposition to SCM. Our primary study cohort consists of 28 women who suffered SCM as a result of two devastating earthquakes that struck the city of Christchurch, New Zealand, in 2010 and 2011. To seek possible underlying genetic factors we carried out exome analysis, genotyping array analysis, and array comparative genomic hybridization on these subjects. The most striking finding was the observation of a markedly elevated rate of rare, heterogeneous copy number variants (CNV) of uncertain clinical significance (in 12/28 subjects). Several of these CNVs impacted on genes of cardiac relevance including
RBFOX1
,
GPC5
,
KCNRG
,
CHODL
, and
GPBP1L1
. There is no physical overlap between the CNVs, and the genes they impact do not appear to be functionally related. The recognition that SCM predisposition may be associated with a high rate of rare CNVs offers a novel perspective on this enigmatic condition.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>29765130</pmid><doi>10.1038/s41598-018-25827-5</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0002-6445-8526</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Nature Free; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection; Free Full-Text Journals in Chemistry; Springer Nature OA Free Journals |
| subjects | 45/23 45/43 45/61 631/208/212/2301 692/4019/592/2727 Cardiomyopathy Comparative Genomic Hybridization Copy number DNA Copy Number Variations Earthquakes Exome Sequencing Female Gene Regulatory Networks Genetic analysis Genetic factors Genetic Predisposition to Disease Genotyping Genotyping Techniques - methods Glypicans - genetics Heart Humanities and Social Sciences Humans Hybridization Lectins, C-Type - genetics Membrane Proteins - genetics multidisciplinary Natural disasters New Zealand Oligonucleotide Array Sequence Analysis Potassium Channels - genetics RNA Splicing Factors - genetics Science Science (multidisciplinary) Seismic activity Takotsubo Cardiomyopathy - genetics |
| title | Copy number variants implicate cardiac function and development pathways in earthquake-induced stress cardiomyopathy |
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