Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder
Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTA...
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| Veröffentlicht in: | International journal of molecular sciences 2024-08, Vol.25 (15), p.8315 |
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| creator | Goncharova, Irina A Shipulina, Sofia A Sleptcov, Aleksei A Zarubin, Aleksei A Valiakhmetov, Nail R Panfilov, Dmitry S Lelik, Evgeniya V Saushkin, Viktor V Kozlov, Boris N Nazarenko, Ludmila P Nazarenko, Maria S |
| description | Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [
c.7841C>T (p.Ala2614Val),
c.2498A>T (p.Lys833Ile), and
c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen). The remaining variants are in "potentially diagnostic" genes or genes with experimental evidence of disease association [
c.964G>A (p.Val322Met),
c.953C>G (p.Pro318Arg), and
c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (
,
,
,
,
, or
). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare "predisposing" low-penetrance variants causing the pathology if combined with other risk factors. |
| doi_str_mv | 10.3390/ijms25158315 |
| format | Article |
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c.7841C>T (p.Ala2614Val),
c.2498A>T (p.Lys833Ile), and
c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen). The remaining variants are in "potentially diagnostic" genes or genes with experimental evidence of disease association [
c.964G>A (p.Val322Met),
c.953C>G (p.Pro318Arg), and
c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (
,
,
,
,
, or
). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare "predisposing" low-penetrance variants causing the pathology if combined with other risk factors.</description><identifier>ISSN: 1422-0067</identifier><identifier>ISSN: 1661-6596</identifier><identifier>EISSN: 1422-0067</identifier><identifier>DOI: 10.3390/ijms25158315</identifier><identifier>PMID: 39125885</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adipokines ; Adult ; Aged ; Aneurysms ; Angina pectoris ; Aortic Aneurysm, Thoracic - genetics ; Aortic aneurysms ; Atherosclerosis ; Cardiac Myosins - genetics ; Cardiovascular disease ; Collagen Type III - genetics ; Coronary vessels ; Diseases ; Dissection ; Ethylenediaminetetraacetic acid ; Family medical history ; Female ; Females ; Fibrillin-1 - genetics ; Genes ; Genetic aspects ; Genetic counseling ; Genetic Predisposition to Disease ; Genetic screening ; Genetic testing ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Hypertension ; Male ; Males ; Marfan syndrome ; Middle Aged ; Mutation ; Myosin Heavy Chains - genetics ; Pathology ; Patients ; Risk factors ; Russia ; Russia - epidemiology ; Type 2 diabetes</subject><ispartof>International journal of molecular sciences, 2024-08, Vol.25 (15), p.8315</ispartof><rights>COPYRIGHT 2024 MDPI AG</rights><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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><cites>FETCH-LOGICAL-c311t-ee80eb80596be699fdbb758550782e709630d0f86f0de9689f53fa424d284d03</cites><orcidid>0000-0002-0217-7737 ; 0000-0003-2201-350X ; 0000-0002-7553-001X ; 0000-0002-0673-4094 ; 0000-0003-3226-1750 ; 0000-0002-0037-2205 ; 0000-0001-7969-7020</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39125885$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goncharova, Irina A</creatorcontrib><creatorcontrib>Shipulina, Sofia A</creatorcontrib><creatorcontrib>Sleptcov, Aleksei A</creatorcontrib><creatorcontrib>Zarubin, Aleksei A</creatorcontrib><creatorcontrib>Valiakhmetov, Nail R</creatorcontrib><creatorcontrib>Panfilov, Dmitry S</creatorcontrib><creatorcontrib>Lelik, Evgeniya V</creatorcontrib><creatorcontrib>Saushkin, Viktor V</creatorcontrib><creatorcontrib>Kozlov, Boris N</creatorcontrib><creatorcontrib>Nazarenko, Ludmila P</creatorcontrib><creatorcontrib>Nazarenko, Maria S</creatorcontrib><title>Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder</title><title>International journal of molecular sciences</title><addtitle>Int J Mol Sci</addtitle><description>Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [
c.7841C>T (p.Ala2614Val),
c.2498A>T (p.Lys833Ile), and
c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen). The remaining variants are in "potentially diagnostic" genes or genes with experimental evidence of disease association [
c.964G>A (p.Val322Met),
c.953C>G (p.Pro318Arg), and
c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (
,
,
,
,
, or
). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare "predisposing" low-penetrance variants causing the pathology if combined with other risk factors.</description><subject>Adipokines</subject><subject>Adult</subject><subject>Aged</subject><subject>Aneurysms</subject><subject>Angina pectoris</subject><subject>Aortic Aneurysm, Thoracic - genetics</subject><subject>Aortic aneurysms</subject><subject>Atherosclerosis</subject><subject>Cardiac Myosins - genetics</subject><subject>Cardiovascular disease</subject><subject>Collagen Type III - genetics</subject><subject>Coronary vessels</subject><subject>Diseases</subject><subject>Dissection</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Family medical history</subject><subject>Female</subject><subject>Females</subject><subject>Fibrillin-1 - genetics</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic screening</subject><subject>Genetic testing</subject><subject>Genetic Variation</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Hypertension</subject><subject>Male</subject><subject>Males</subject><subject>Marfan syndrome</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Pathology</subject><subject>Patients</subject><subject>Risk factors</subject><subject>Russia</subject><subject>Russia - epidemiology</subject><subject>Type 2 diabetes</subject><issn>1422-0067</issn><issn>1661-6596</issn><issn>1422-0067</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptkk1vEzEQhi1ERUvgxhlZ4sKBtP5Y79rHqNBSqWoRDVxX3vW4cZS1U9srlJ_Vf4g3LVAQ8mHG1vO-MxoPQm8oOeZckRO3HhITVEhOxTN0RCvG5oTUzfMn-SF6mdKaEMaZUC_QIVeUCSnFEbq_MOCzs67X2QWPg8XfdXTa5zTl33wPMWvn8Y279XusvOByzyvA5-Ah4UVKoXc6g8E_XF7h5SpE3bseL0LMJXx0CXTai76OKRVv_KUUg6nEXnAVfNp5E8NQ6JttUZspGbu828K-jalYsQnRQHyFDqzeJHj9GGdoefZpefp5fnl9fnG6uJz3nNI8B5AEOkmEqjuolbKm6xohhSCNZNAQVXNiiJW1JQZULZUV3OqKVYbJyhA-Q-8fbLcx3I2Qcju41MNmoz2EMbWclBnKhom6oO_-QddhjL40N1FE8fI3zR_qVm-gdd6GXMY0mbYLSSpBqSjcDB3_hyrHQJlO8GBdef9L8OFB0MeQUgTbbqMbdNy1lLTTgrRPF6Tgbx97HbsBzG_410bwn6Wgt2k</recordid><startdate>20240801</startdate><enddate>20240801</enddate><creator>Goncharova, Irina A</creator><creator>Shipulina, Sofia A</creator><creator>Sleptcov, Aleksei A</creator><creator>Zarubin, Aleksei A</creator><creator>Valiakhmetov, Nail R</creator><creator>Panfilov, Dmitry S</creator><creator>Lelik, Evgeniya V</creator><creator>Saushkin, Viktor V</creator><creator>Kozlov, Boris N</creator><creator>Nazarenko, Ludmila P</creator><creator>Nazarenko, Maria S</creator><general>MDPI AG</general><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>8G5</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>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-0217-7737</orcidid><orcidid>https://orcid.org/0000-0003-2201-350X</orcidid><orcidid>https://orcid.org/0000-0002-7553-001X</orcidid><orcidid>https://orcid.org/0000-0002-0673-4094</orcidid><orcidid>https://orcid.org/0000-0003-3226-1750</orcidid><orcidid>https://orcid.org/0000-0002-0037-2205</orcidid><orcidid>https://orcid.org/0000-0001-7969-7020</orcidid></search><sort><creationdate>20240801</creationdate><title>Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder</title><author>Goncharova, Irina A ; Shipulina, Sofia A ; Sleptcov, Aleksei A ; Zarubin, Aleksei A ; Valiakhmetov, Nail R ; Panfilov, Dmitry S ; Lelik, Evgeniya V ; Saushkin, Viktor V ; Kozlov, Boris N ; Nazarenko, Ludmila P ; Nazarenko, Maria S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c311t-ee80eb80596be699fdbb758550782e709630d0f86f0de9689f53fa424d284d03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adipokines</topic><topic>Adult</topic><topic>Aged</topic><topic>Aneurysms</topic><topic>Angina pectoris</topic><topic>Aortic Aneurysm, Thoracic - genetics</topic><topic>Aortic aneurysms</topic><topic>Atherosclerosis</topic><topic>Cardiac Myosins - genetics</topic><topic>Cardiovascular disease</topic><topic>Collagen Type III - genetics</topic><topic>Coronary vessels</topic><topic>Diseases</topic><topic>Dissection</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Family medical history</topic><topic>Female</topic><topic>Females</topic><topic>Fibrillin-1 - genetics</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic screening</topic><topic>Genetic testing</topic><topic>Genetic Variation</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Hypertension</topic><topic>Male</topic><topic>Males</topic><topic>Marfan syndrome</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Pathology</topic><topic>Patients</topic><topic>Risk factors</topic><topic>Russia</topic><topic>Russia - epidemiology</topic><topic>Type 2 diabetes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goncharova, Irina A</creatorcontrib><creatorcontrib>Shipulina, Sofia A</creatorcontrib><creatorcontrib>Sleptcov, Aleksei A</creatorcontrib><creatorcontrib>Zarubin, Aleksei A</creatorcontrib><creatorcontrib>Valiakhmetov, Nail R</creatorcontrib><creatorcontrib>Panfilov, Dmitry S</creatorcontrib><creatorcontrib>Lelik, Evgeniya V</creatorcontrib><creatorcontrib>Saushkin, Viktor V</creatorcontrib><creatorcontrib>Kozlov, Boris N</creatorcontrib><creatorcontrib>Nazarenko, Ludmila P</creatorcontrib><creatorcontrib>Nazarenko, Maria S</creatorcontrib><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>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>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>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 Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Research Library (Corporate)</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 China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of molecular sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goncharova, Irina A</au><au>Shipulina, Sofia A</au><au>Sleptcov, Aleksei A</au><au>Zarubin, Aleksei A</au><au>Valiakhmetov, Nail R</au><au>Panfilov, Dmitry S</au><au>Lelik, Evgeniya V</au><au>Saushkin, Viktor V</au><au>Kozlov, Boris N</au><au>Nazarenko, Ludmila P</au><au>Nazarenko, Maria S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder</atitle><jtitle>International journal of molecular sciences</jtitle><addtitle>Int J Mol Sci</addtitle><date>2024-08-01</date><risdate>2024</risdate><volume>25</volume><issue>15</issue><spage>8315</spage><pages>8315-</pages><issn>1422-0067</issn><issn>1661-6596</issn><eissn>1422-0067</eissn><abstract>Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [
c.7841C>T (p.Ala2614Val),
c.2498A>T (p.Lys833Ile), and
c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen). The remaining variants are in "potentially diagnostic" genes or genes with experimental evidence of disease association [
c.964G>A (p.Val322Met),
c.953C>G (p.Pro318Arg), and
c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (
,
,
,
,
, or
). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare "predisposing" low-penetrance variants causing the pathology if combined with other risk factors.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>39125885</pmid><doi>10.3390/ijms25158315</doi><orcidid>https://orcid.org/0000-0002-0217-7737</orcidid><orcidid>https://orcid.org/0000-0003-2201-350X</orcidid><orcidid>https://orcid.org/0000-0002-7553-001X</orcidid><orcidid>https://orcid.org/0000-0002-0673-4094</orcidid><orcidid>https://orcid.org/0000-0003-3226-1750</orcidid><orcidid>https://orcid.org/0000-0002-0037-2205</orcidid><orcidid>https://orcid.org/0000-0001-7969-7020</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | International journal of molecular sciences, 2024-08, Vol.25 (15), p.8315 |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Adipokines Adult Aged Aneurysms Angina pectoris Aortic Aneurysm, Thoracic - genetics Aortic aneurysms Atherosclerosis Cardiac Myosins - genetics Cardiovascular disease Collagen Type III - genetics Coronary vessels Diseases Dissection Ethylenediaminetetraacetic acid Family medical history Female Females Fibrillin-1 - genetics Genes Genetic aspects Genetic counseling Genetic Predisposition to Disease Genetic screening Genetic testing Genetic Variation High-Throughput Nucleotide Sequencing Humans Hypertension Male Males Marfan syndrome Middle Aged Mutation Myosin Heavy Chains - genetics Pathology Patients Risk factors Russia Russia - epidemiology Type 2 diabetes |
| title | Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder |
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