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{"title"=>"Genetic variants in FBN-1and risk for thoracic aortic aneurysm and dissection", "type"=>"journal", "authors"=>[{"first_name"=>"Olga A.", "last_name"=>"Iakoubova", "scopus_author_id"=>"6602599820"}, {"first_name"=>"Carmen H.", "last_name"=>"Tong", "scopus_author_id"=>"15069963400"}, {"first_name"=>"Charles M.", "last_name"=>"Rowland", "scopus_author_id"=>"35406044100"}, {"first_name"=>"May M.", "last_name"=>"Luke", "scopus_author_id"=>"8898426400"}, {"first_name"=>"Veronica E.", "last_name"=>"Garcia", "scopus_author_id"=>"56264108900"}, {"first_name"=>"Joseph J.", "last_name"=>"Catanese", "scopus_author_id"=>"56211957000"}, {"first_name"=>"Remo M.", "last_name"=>"Moomiaie", "scopus_author_id"=>"16042961100"}, {"first_name"=>"Peter", "last_name"=>"Sotonyi", "scopus_author_id"=>"6507412634"}, {"first_name"=>"Gyorgy", "last_name"=>"Ascady", "scopus_author_id"=>"56147092000"}, {"first_name"=>"Demitrios", "last_name"=>"Nikas", "scopus_author_id"=>"56146487300"}, {"first_name"=>"Panagiotis", "last_name"=>"Dedelias", "scopus_author_id"=>"15061040900"}, {"first_name"=>"Maryann", "last_name"=>"Tranquilli", "scopus_author_id"=>"6507774376"}, {"first_name"=>"John A.", "last_name"=>"Elefteriades", "scopus_author_id"=>"7006697968"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"sgr"=>"84899769282", "doi"=>"10.1371/journal.pone.0091437", "scopus"=>"2-s2.0-84899769282", "pui"=>"372999776", "issn"=>"19326203"}, "id"=>"7150d802-accb-3477-868a-cc326bd9f485", "abstract"=>"Objectives: A recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the FBN-1 gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study. Methods:The genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension. Results and Conclusions:In the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.152.80) and they had odds ratio for TAD of 1.87 (95% CI 1.093.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.375.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.365.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. Thus, the Yale study provided further support for the association of the FBN-1 rs2118181SNP with TAD. © 2014 Iakoubova et al.", "link"=>"http://www.mendeley.com/research/genetic-variants-fbn1and-risk-thoracic-aortic-aneurysm-dissection", "reader_count"=>1, "reader_count_by_academic_status"=>{"Professor"=>1}, "reader_count_by_user_role"=>{"Professor"=>1}, "reader_count_by_subject_area"=>{"Medicine and Dentistry"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>1}}, "group_count"=>0}

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• http://doi.org/10.1016/j.jtcvs.2014.07.070
• http://doi.org/10.1002/jcp.29152
• http://doi.org/10.1080/24748706.2017.1404664
• http://doi.org/10.1016/j.matbio.2018.04.005
• http://doi.org/10.1038/s41371-018-0159-6
• http://doi.org/10.1097/HCO.0000000000000114
• http://doi.org/10.1371/journal.pone.0176727
• http://doi.org/10.1007/s12055-018-0659-6
• http://doi.org/10.1016/j.cjca.2019.03.023
• http://doi.org/10.1016/j.jtcvs.2014.07.066
• http://doi.org/10.1093/ejcts/ezu520
• http://doi.org/10.1016/j.yjmcc.2016.11.012
• http://doi.org/10.1097/BRS.0000000000002809
• http://doi.org/10.2119/molmed.2015.00102
• http://doi.org/10.1186/s12891-016-0935-9

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• {"id"=>"464347142820483072", "text"=>"Confirmado: #rs2118181 pone a las personas en riesgo significativamente mayor de disección aórtica o ruptura completa http://t.co/5dGMJCb879", "created_at"=>"2014-05-08T10:12:40Z", "user"=>"toni_segovia", "user_name"=>"Toni Segovia", "user_profile_image"=>"http://pbs.twimg.com/profile_images/2595559611/5xbs13gbcsm6pjvhp2fg_normal.jpeg"}

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• {"files"=>["https://ndownloader.figshare.com/files/1469390"], "description"=>"<div><p>Objectives</p><p>A recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the <i>FBN-1</i> gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study.</p><p>Methods</p><p>The genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension.</p><p>Results and Conclusions</p><p>In the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.15–2.80) and they had odds ratio for TAD of 1.87 (95% CI 1.09–3.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37–5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36–5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. Thus, the Yale study provided further support for the association of the <i>FBN-1</i> rs2118181SNP with TAD.</p></div>", "links"=>[], "tags"=>["genetics", "genomics", "Genomic medicine", "genetic testing", "Human genetics", "Genetic association studies", "Genetics of disease", "Molecular genetics", "cardiology", "Acute cardiovascular problems", "Diagnostic medicine", "Pathology and laboratory medicine", "Clinical pathology", "Vascular medicine", "Aortic diseases", "mathematics", "Statistics (mathematics)", "Statistical methods", "meta-analysis", "research design", "Clinical research design", "variants", "thoracic", "aortic", "aneurysm", "dissection"], "article_id"=>1003221, "categories"=>["Biological Sciences"], "users"=>["Olga A. Iakoubova", "Carmen H. Tong", "Charles M. Rowland", "May M. Luke", "Veronica E. Garcia", "Joseph J. Catanese", "Remo M. Moomiaie", "Péter Sótonyi", "Gyorgy Ascady", "Demitrios Nikas", "Panagiotis Dedelias", "Maryann Tranquilli", "John A. Elefteriades"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091437", "stats"=>{"downloads"=>5, "page_views"=>15, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genetic_Variants_in_FBN_1_and_Risk_for_Thoracic_Aortic_Aneurysm_and_Dissection/1003221", "title"=>"Genetic Variants in <i>FBN-1</i> and Risk for Thoracic Aortic Aneurysm and Dissection", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:49:53"}
• {"files"=>["https://ndownloader.figshare.com/files/1469388"], "description"=>"<p>*Adjusted for sex and study center.</p>†<p>Adjusted for sex, study center, age, hypertension, and smoking.</p>", "links"=>[], "tags"=>["genetics", "genomics", "Genomic medicine", "genetic testing", "Human genetics", "Genetic association studies", "Genetics of disease", "Molecular genetics", "cardiology", "Acute cardiovascular problems", "Diagnostic medicine", "Pathology and laboratory medicine", "Clinical pathology", "Vascular medicine", "Aortic diseases", "mathematics", "Statistics (mathematics)", "Statistical methods", "meta-analysis", "research design", "Clinical research design", "snps", "non-dissecting", "thoracic", "aortic"], "article_id"=>1003219, "categories"=>["Biological Sciences"], "users"=>["Olga A. Iakoubova", "Carmen H. Tong", "Charles M. Rowland", "May M. Luke", "Veronica E. Garcia", "Joseph J. Catanese", "Remo M. Moomiaie", "Péter Sótonyi", "Gyorgy Ascady", "Demitrios Nikas", "Panagiotis Dedelias", "Maryann Tranquilli", "John A. Elefteriades"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091437.t003", "stats"=>{"downloads"=>8, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_of_two_SNPs_in_FBN_1_with_Non_dissecting_Thoracic_Aortic_Aneurysm_/1003219", "title"=>"Association of two SNPs in <i>FBN-1</i> with Non-dissecting Thoracic Aortic Aneurysm.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:49:53"}
• {"files"=>["https://ndownloader.figshare.com/files/1469386"], "description"=>"<p>*P value for Dissection cases vs. controls;</p>†<p>P value for Non-dissecting aneurysm cases vs. controls.</p><p>Data presented as mean ± standard deviation for age and as a number (%) of subjects for other variables.</p><p><i>P</i> values are from Fisher exact test, except those for age, which are from the Wilcoxon rank sum test.</p>", "links"=>[], "tags"=>["genetics", "genomics", "Genomic medicine", "genetic testing", "Human genetics", "Genetic association studies", "Genetics of disease", "Molecular genetics", "cardiology", "Acute cardiovascular problems", "Diagnostic medicine", "Pathology and laboratory medicine", "Clinical pathology", "Vascular medicine", "Aortic diseases", "mathematics", "Statistics (mathematics)", "Statistical methods", "meta-analysis", "research design", "Clinical research design", "non-dissecting", "aneurysm"], "article_id"=>1003217, "categories"=>["Biological Sciences"], "users"=>["Olga A. Iakoubova", "Carmen H. Tong", "Charles M. Rowland", "May M. Luke", "Veronica E. Garcia", "Joseph J. Catanese", "Remo M. Moomiaie", "Péter Sótonyi", "Gyorgy Ascady", "Demitrios Nikas", "Panagiotis Dedelias", "Maryann Tranquilli", "John A. Elefteriades"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091437.t001", "stats"=>{"downloads"=>1, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characteristics_of_Dissection_Non_dissecting_Aneurysm_Cases_and_Controls_/1003217", "title"=>"Characteristics of Dissection, Non-dissecting Aneurysm Cases, and Controls.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:49:53"}
• {"files"=>["https://ndownloader.figshare.com/files/1469387"], "description"=>"<p>*Adjusted for sex and study center.</p>†<p>Adjusted for sex, study center, age, hypertension, and smoking.</p>", "links"=>[], "tags"=>["genetics", "genomics", "Genomic medicine", "genetic testing", "Human genetics", "Genetic association studies", "Genetics of disease", "Molecular genetics", "cardiology", "Acute cardiovascular problems", "Diagnostic medicine", "Pathology and laboratory medicine", "Clinical pathology", "Vascular medicine", "Aortic diseases", "mathematics", "Statistics (mathematics)", "Statistical methods", "meta-analysis", "research design", "Clinical research design", "snps", "thoracic", "aortic"], "article_id"=>1003218, "categories"=>["Biological Sciences"], "users"=>["Olga A. Iakoubova", "Carmen H. Tong", "Charles M. Rowland", "May M. Luke", "Veronica E. Garcia", "Joseph J. Catanese", "Remo M. Moomiaie", "Péter Sótonyi", "Gyorgy Ascady", "Demitrios Nikas", "Panagiotis Dedelias", "Maryann Tranquilli", "John A. Elefteriades"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091437.t002", "stats"=>{"downloads"=>2, "page_views"=>11, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_of_two_SNPs_in_FBN_1_with_Thoracic_Aortic_Dissection_/1003218", "title"=>"Association of two SNPs in <i>FBN-1</i> with Thoracic Aortic Dissection.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:49:53"}
• {"files"=>["https://ndownloader.figshare.com/files/1469385"], "description"=>"<p>*Adjusted for sex and study center.</p>†<p>Adjusted for sex, study center, age, hypertension, and smoking.</p>", "links"=>[], "tags"=>["genetics", "genomics", "Genomic medicine", "genetic testing", "Human genetics", "Genetic association studies", "Genetics of disease", "Molecular genetics", "cardiology", "Acute cardiovascular problems", "Diagnostic medicine", "Pathology and laboratory medicine", "Clinical pathology", "Vascular medicine", "Aortic diseases", "mathematics", "Statistics (mathematics)", "Statistical methods", "meta-analysis", "research design", "Clinical research design", "snps", "thoracic", "aortic", "dissection"], "article_id"=>1003215, "categories"=>["Biological Sciences"], "users"=>["Olga A. Iakoubova", "Carmen H. Tong", "Charles M. Rowland", "May M. Luke", "Veronica E. Garcia", "Joseph J. Catanese", "Remo M. Moomiaie", "Péter Sótonyi", "Gyorgy Ascady", "Demitrios Nikas", "Panagiotis Dedelias", "Maryann Tranquilli", "John A. Elefteriades"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0091437.t004", "stats"=>{"downloads"=>3, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_of_the_SNPs_in_FBN_1_with_Thoracic_Aortic_Dissection_or_Aneurysm_/1003215", "title"=>"Association of the SNPs in <i>FBN-1</i> with Thoracic Aortic Dissection or Aneurysm.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-04-17 03:49:53"}

PMC Usage Stats | Further Information

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Relative Metric

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F1000Prime