Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm
Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequ...
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Veröffentlicht in: | European journal of human genetics : EJHG 2021-07, Vol.29 (7), p.1129-1138 |
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creator | Li, Yang Kong, Yu Duan, Weixun Yu, Shiqiang Zhou, Xinmin Hu, Yerong Ou, Jing-Song Yi, Dinghua Xie, Jinsheng Zhu, Junming Sun, Lizhong Li, Yulin Du, Jie |
description | Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. The genotype-phenotype correlations may complement the risk stratification of iTAAD patients and identification of higher risk subgroups, as well as assist the development of tailored precision medicine in iTAAD. |
doi_str_mv | 10.1038/s41431-021-00857-2 |
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However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. The genotype-phenotype correlations may complement the risk stratification of iTAAD patients and identification of higher risk subgroups, as well as assist the development of tailored precision medicine in iTAAD.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-021-00857-2</identifier><identifier>PMID: 33824467</identifier><language>eng</language><publisher>LONDON: Springer Nature</publisher><subject>Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Alleles ; Aortic Aneurysm, Thoracic - diagnosis ; Aortic Aneurysm, Thoracic - genetics ; Aortic aneurysms ; Biochemistry & Molecular Biology ; China ; Dissection ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics & Heredity ; Genotypes ; Heart Function Tests ; Humans ; Life Sciences & Biomedicine ; Male ; Middle Aged ; Patients ; Phenotypes ; Precision medicine ; Prognosis ; Risk factors ; Risk groups ; Science & Technology ; Thorax ; Tomography, X-Ray Computed ; Ultrasonography ; Young Adult</subject><ispartof>European journal of human genetics : EJHG, 2021-07, Vol.29 (7), p.1129-1138</ispartof><rights>2021. The Author(s), under exclusive licence to European Society of Human Genetics.</rights><rights>The Author(s), under exclusive licence to European Society of Human Genetics 2021.</rights><rights>The Author(s), under exclusive licence to European Society of Human Genetics 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>true</woscitedreferencessubscribed><woscitedreferencescount>6</woscitedreferencescount><woscitedreferencesoriginalsourcerecordid>wos000637458400001</woscitedreferencesoriginalsourcerecordid><citedby>FETCH-LOGICAL-c430t-21697b9f4817add2217b969b5d5abb3b6e46eeec20527b9fb7e274ef952dfe93</citedby><cites>FETCH-LOGICAL-c430t-21697b9f4817add2217b969b5d5abb3b6e46eeec20527b9fb7e274ef952dfe93</cites><orcidid>0000-0001-6613-4042</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/PMC8298584/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8298584/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33824467$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Li, Yang</creatorcontrib><creatorcontrib>Kong, Yu</creatorcontrib><creatorcontrib>Duan, Weixun</creatorcontrib><creatorcontrib>Yu, Shiqiang</creatorcontrib><creatorcontrib>Zhou, Xinmin</creatorcontrib><creatorcontrib>Hu, Yerong</creatorcontrib><creatorcontrib>Ou, Jing-Song</creatorcontrib><creatorcontrib>Yi, Dinghua</creatorcontrib><creatorcontrib>Xie, Jinsheng</creatorcontrib><creatorcontrib>Zhu, Junming</creatorcontrib><creatorcontrib>Sun, Lizhong</creatorcontrib><creatorcontrib>Li, Yulin</creatorcontrib><creatorcontrib>Du, Jie</creatorcontrib><title>Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm</title><title>European journal of human genetics : EJHG</title><addtitle>EUR J HUM GENET</addtitle><addtitle>Eur J Hum Genet</addtitle><description>Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. The genotype-phenotype correlations may complement the risk stratification of iTAAD patients and identification of higher risk subgroups, as well as assist the development of tailored precision medicine in iTAAD.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Aortic Aneurysm, Thoracic - diagnosis</subject><subject>Aortic Aneurysm, Thoracic - genetics</subject><subject>Aortic aneurysms</subject><subject>Biochemistry & Molecular Biology</subject><subject>China</subject><subject>Dissection</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genetics & Heredity</subject><subject>Genotypes</subject><subject>Heart Function Tests</subject><subject>Humans</subject><subject>Life Sciences & Biomedicine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Precision medicine</subject><subject>Prognosis</subject><subject>Risk factors</subject><subject>Risk groups</subject><subject>Science & Technology</subject><subject>Thorax</subject><subject>Tomography, X-Ray Computed</subject><subject>Ultrasonography</subject><subject>Young Adult</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>HGBXW</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkUtr3DAUhU1paNK0f6CLYuimUJzqZUveFMKQPiCQTfZClq9nFGzJleSEoX--dx4d2q6yELrS_e5BR6co3lFyRQlXn5OggtOKMFxE1bJiL4oLKmRT1YKrl1gTqiqhKD8vXqf0QAg2JX1VnHOumBCNvCh-3TyacTHZ-XWZN1BOwYc1eGdLG3yOrluyC740vi_xOuTtDNW8OVbIxAij2SPOlzNW4HMqn1zelC4FbEGPuiEai5ImxLzbPCxxm6Y3xdlgxgRvj_tlcf_15n71vbq9-_ZjdX1bWcFJrhhtWtm1AxqRpu8Zo3hq2q7ua9N1vGtANABgGanZjuskMClgaGvWD9Dyy-LLQXZeugl6iy-MZtRzdJOJWx2M0_92vNvodXjUirWqVgIFPh4FYvi5QMp6csnCOKKRsCTNatI2BP-cIvrhP_QhLNGjO6RqQRlTfCfIDpSNIaUIw-kxlOhdtPoQrcZo9T5azXDo_d82TiN_skRAHYAn6MKQLEZh4YQRQhouBfrBitCVy_vYVmHxGUc_PX-U_wZmqMRT</recordid><startdate>20210701</startdate><enddate>20210701</enddate><creator>Li, Yang</creator><creator>Kong, Yu</creator><creator>Duan, Weixun</creator><creator>Yu, Shiqiang</creator><creator>Zhou, Xinmin</creator><creator>Hu, Yerong</creator><creator>Ou, Jing-Song</creator><creator>Yi, Dinghua</creator><creator>Xie, Jinsheng</creator><creator>Zhu, Junming</creator><creator>Sun, Lizhong</creator><creator>Li, Yulin</creator><creator>Du, Jie</creator><general>Springer Nature</general><general>Nature Publishing Group</general><general>Springer International Publishing</general><scope>BLEPL</scope><scope>DTL</scope><scope>HGBXW</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>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</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>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-6613-4042</orcidid></search><sort><creationdate>20210701</creationdate><title>Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm</title><author>Li, Yang ; Kong, Yu ; Duan, Weixun ; Yu, Shiqiang ; Zhou, Xinmin ; Hu, Yerong ; Ou, Jing-Song ; Yi, Dinghua ; Xie, Jinsheng ; Zhu, Junming ; Sun, Lizhong ; Li, Yulin ; Du, Jie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c430t-21697b9f4817add2217b969b5d5abb3b6e46eeec20527b9fb7e274ef952dfe93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alleles</topic><topic>Aortic Aneurysm, Thoracic - diagnosis</topic><topic>Aortic Aneurysm, Thoracic - genetics</topic><topic>Aortic aneurysms</topic><topic>Biochemistry & Molecular Biology</topic><topic>China</topic><topic>Dissection</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genetics & Heredity</topic><topic>Genotypes</topic><topic>Heart Function Tests</topic><topic>Humans</topic><topic>Life Sciences & Biomedicine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Precision medicine</topic><topic>Prognosis</topic><topic>Risk factors</topic><topic>Risk groups</topic><topic>Science & Technology</topic><topic>Thorax</topic><topic>Tomography, X-Ray Computed</topic><topic>Ultrasonography</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Li, Yang</creatorcontrib><creatorcontrib>Kong, Yu</creatorcontrib><creatorcontrib>Duan, Weixun</creatorcontrib><creatorcontrib>Yu, Shiqiang</creatorcontrib><creatorcontrib>Zhou, Xinmin</creatorcontrib><creatorcontrib>Hu, Yerong</creatorcontrib><creatorcontrib>Ou, Jing-Song</creatorcontrib><creatorcontrib>Yi, Dinghua</creatorcontrib><creatorcontrib>Xie, Jinsheng</creatorcontrib><creatorcontrib>Zhu, Junming</creatorcontrib><creatorcontrib>Sun, Lizhong</creatorcontrib><creatorcontrib>Li, Yulin</creatorcontrib><creatorcontrib>Du, Jie</creatorcontrib><collection>Web of Science Core Collection</collection><collection>Science Citation Index Expanded</collection><collection>Web of Science - Science Citation Index Expanded - 2021</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>ProQuest Pharma Collection</collection><collection>Technology Research Database</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 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>Engineering Research Database</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>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Li, Yang</au><au>Kong, Yu</au><au>Duan, Weixun</au><au>Yu, Shiqiang</au><au>Zhou, Xinmin</au><au>Hu, Yerong</au><au>Ou, Jing-Song</au><au>Yi, Dinghua</au><au>Xie, Jinsheng</au><au>Zhu, Junming</au><au>Sun, Lizhong</au><au>Li, Yulin</au><au>Du, Jie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>EUR J HUM GENET</stitle><addtitle>Eur J Hum Genet</addtitle><date>2021-07-01</date><risdate>2021</risdate><volume>29</volume><issue>7</issue><spage>1129</spage><epage>1138</epage><pages>1129-1138</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Thoracic aortic aneurysm with or without dissection (TAAD) can be broadly categorized as syndromic TAAD (sTAAD) and isolated TAAD (iTAAD). sTAAD and is highly correlated with genetics. However, although the incidence of iTAAD is much higher, its monogenic contribution is not yet clear. Here, we sequenced 15 known TAAD genes for 578 iTAAD cases from four cardiac centers in China and found that 10.6% patients with a pathogenic/likely pathogenic (P/LP) variant. Other 7.27% of patients carried variants of uncertain significance in these target genes. We further investigated the correlations among genetics, clinical features, and long-term outcomes. Genetic patients showed younger onset ages (P = 1.31E-13) and larger aortic diameter (P = 1.00E-6), with the youngest age in patients with FBN1 P/LP variants. Monogenic variants were also associated with more aortic segments involved (P = 0.043) and complicated with initial dissection (P = 4.50E-5), especially for genetic patients with non-FBN1 P/LP variants. MACEs occurred in 14.9% patients during follow-up of median 55 months. Genetic status (P = 0.001) and initial dissection (P = 3.00E-6) were two major risk factors for poor prognosis. Early onset age was associated with MACEs in non-genetic cases without initial dissection (P = 0.005). Our study revealed the monogenic contribution in known TAAD genes to iTAAD patients. The genotype-phenotype correlations may complement the risk stratification of iTAAD patients and identification of higher risk subgroups, as well as assist the development of tailored precision medicine in iTAAD.</abstract><cop>LONDON</cop><pub>Springer Nature</pub><pmid>33824467</pmid><doi>10.1038/s41431-021-00857-2</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0001-6613-4042</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Adult Age of Onset Aged Aged, 80 and over Alleles Aortic Aneurysm, Thoracic - diagnosis Aortic Aneurysm, Thoracic - genetics Aortic aneurysms Biochemistry & Molecular Biology China Dissection Female Genetic Association Studies Genetic Predisposition to Disease Genetic Variation Genetics & Heredity Genotypes Heart Function Tests Humans Life Sciences & Biomedicine Male Middle Aged Patients Phenotypes Precision medicine Prognosis Risk factors Risk groups Science & Technology Thorax Tomography, X-Ray Computed Ultrasonography Young Adult |
title | Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm |
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