Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy
Left ventricular maximum wall thickness (LVMWT) is an important biomarker of left ventricular hypertrophy and provides diagnostic and prognostic information in hypertrophic cardiomyopathy (HCM). Limited information is available on the genetic determinants of LVMWT. We performed a genome-wide associa...
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| Veröffentlicht in: | Circulation. Genomic and precision medicine 2023-02, Vol.16 (1), p.e003716-e003716 |
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| creator | Aung, Nay Lopes, Luis R. van Duijvenboden, Stefan Harper, Andrew R. Goel, Anuj Grace, Christopher Ho, Carolyn Y. Weintraub, William S. Kramer, Christopher M. Neubauer, Stefan Watkins, Hugh C. Petersen, Steffen E. Munroe, Patricia B. |
| description | Left ventricular maximum wall thickness (LVMWT) is an important biomarker of left ventricular hypertrophy and provides diagnostic and prognostic information in hypertrophic cardiomyopathy (HCM). Limited information is available on the genetic determinants of LVMWT.
We performed a genome-wide association study of LVMWT measured from the cardiovascular magnetic resonance examinations of 42 176 European individuals. We evaluated the genetic relationship between LVMWT and HCM by performing pairwise analysis using the data from the Hypertrophic Cardiomyopathy Registry in which the controls were randomly selected from UK Biobank individuals not included in the cardiovascular magnetic resonance sub-study.
Twenty-one genetic loci were discovered at |
| doi_str_mv | 10.1161/CIRCGEN.122.003716 |
| format | Article |
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We performed a genome-wide association study of LVMWT measured from the cardiovascular magnetic resonance examinations of 42 176 European individuals. We evaluated the genetic relationship between LVMWT and HCM by performing pairwise analysis using the data from the Hypertrophic Cardiomyopathy Registry in which the controls were randomly selected from UK Biobank individuals not included in the cardiovascular magnetic resonance sub-study.
Twenty-one genetic loci were discovered at
<5×10
. Several novel candidate genes were identified including
,
, and
, with known functional roles in myocardial growth and sarcomere organization. The LVMWT genetic risk score is predictive of HCM in the Hypertrophic Cardiomyopathy Registry (odds ratio per SD: 1.18 [95% CI, 1.13-1.23]) with pairwise analyses demonstrating a moderate genetic correlation (r
=0.53) and substantial loci overlap (19/21).
Our findings provide novel insights into the genetic underpinning of LVMWT and highlight its shared genetic background with HCM, supporting future endeavours to elucidate the genetic etiology of HCM.</description><identifier>ISSN: 2574-8300</identifier><identifier>EISSN: 2574-8300</identifier><identifier>DOI: 10.1161/CIRCGEN.122.003716</identifier><identifier>PMID: 36598836</identifier><language>eng</language><publisher>United States: Lippincott Williams & Wilkins</publisher><subject>Biological Specimen Banks ; Cardiomyopathy, Hypertrophic - diagnosis ; Cardiomyopathy, Hypertrophic - genetics ; Genome-Wide Association Study ; Humans ; Hypertrophy, Left Ventricular - diagnosis ; Hypertrophy, Left Ventricular - genetics ; Original ; United Kingdom</subject><ispartof>Circulation. Genomic and precision medicine, 2023-02, Vol.16 (1), p.e003716-e003716</ispartof><rights>Lippincott Williams & Wilkins</rights><rights>2022 The Authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4472-8c340675106b979bab65a71120c78a7c0d77ac51194b3b5bd9156be8f48fbc2f3</citedby><cites>FETCH-LOGICAL-c4472-8c340675106b979bab65a71120c78a7c0d77ac51194b3b5bd9156be8f48fbc2f3</cites><orcidid>0000-0001-5327-0328 ; 0000-0003-2057-7731 ; 0000-0002-7334-7924 ; 0000-0001-9017-5645 ; 0000-0001-5095-1611 ; 0000-0002-5384-5571 ; 0000-0002-4176-2947 ; 0000-0003-2307-4021 ; 0000-0002-5287-9016 ; 0000-0003-4622-5160 ; 0000-0002-6408-4667</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,3685,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36598836$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aung, Nay</creatorcontrib><creatorcontrib>Lopes, Luis R.</creatorcontrib><creatorcontrib>van Duijvenboden, Stefan</creatorcontrib><creatorcontrib>Harper, Andrew R.</creatorcontrib><creatorcontrib>Goel, Anuj</creatorcontrib><creatorcontrib>Grace, Christopher</creatorcontrib><creatorcontrib>Ho, Carolyn Y.</creatorcontrib><creatorcontrib>Weintraub, William S.</creatorcontrib><creatorcontrib>Kramer, Christopher M.</creatorcontrib><creatorcontrib>Neubauer, Stefan</creatorcontrib><creatorcontrib>Watkins, Hugh C.</creatorcontrib><creatorcontrib>Petersen, Steffen E.</creatorcontrib><creatorcontrib>Munroe, Patricia B.</creatorcontrib><title>Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy</title><title>Circulation. Genomic and precision medicine</title><addtitle>Circ Genom Precis Med</addtitle><description>Left ventricular maximum wall thickness (LVMWT) is an important biomarker of left ventricular hypertrophy and provides diagnostic and prognostic information in hypertrophic cardiomyopathy (HCM). Limited information is available on the genetic determinants of LVMWT.
We performed a genome-wide association study of LVMWT measured from the cardiovascular magnetic resonance examinations of 42 176 European individuals. We evaluated the genetic relationship between LVMWT and HCM by performing pairwise analysis using the data from the Hypertrophic Cardiomyopathy Registry in which the controls were randomly selected from UK Biobank individuals not included in the cardiovascular magnetic resonance sub-study.
Twenty-one genetic loci were discovered at
<5×10
. Several novel candidate genes were identified including
,
, and
, with known functional roles in myocardial growth and sarcomere organization. The LVMWT genetic risk score is predictive of HCM in the Hypertrophic Cardiomyopathy Registry (odds ratio per SD: 1.18 [95% CI, 1.13-1.23]) with pairwise analyses demonstrating a moderate genetic correlation (r
=0.53) and substantial loci overlap (19/21).
Our findings provide novel insights into the genetic underpinning of LVMWT and highlight its shared genetic background with HCM, supporting future endeavours to elucidate the genetic etiology of HCM.</description><subject>Biological Specimen Banks</subject><subject>Cardiomyopathy, Hypertrophic - diagnosis</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>Hypertrophy, Left Ventricular - diagnosis</subject><subject>Hypertrophy, Left Ventricular - genetics</subject><subject>Original</subject><subject>United Kingdom</subject><issn>2574-8300</issn><issn>2574-8300</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkcFu1DAQhiMEolXpC3BAPnLJMnYSO74gtVHZViwglZY9Wo7jNGaTONhOSx6Gd8XVLlU5WB7L_3xj60uStxhWGFP8obq6rtYXX1eYkBVAxjB9kRyTguVpmQG8fFYfJafe_wQAzDmnhL5OjjJa8LLM6HHyZ61HO-h0axqNzkbZL954ZFu00W1AP_QYnFFzLx36In-bYR7QVvY9uumM2o3ae2RGFDqNbj-jc2NrOe5QZTvrArrW91r2Hkn0vZNONyhO0sEodC7V7s7ZeWzQ1oQOXS6TdsHZKTJRJV1j7LDYSYZueZO8aiNDnx72k-T208VNdZluvq2vqrNNqvKckbRUWQ6UFRhozRmvZU0LyTAmoFgpmYKGMakKjHleZ3VRNxwXtNZlm5dtrUibnSQf99xprgfdqMdvy15MzgzSLcJKI_6_GU0n7uy94DynmPIIeH8AOPtr1j6IwXil-16O2s5eEEahxGVJsxgl-6hy1nun26cxGMSjWnFQK6JasVcbm949f-BTyz-RMZDvAw-2D9r5XT8_aCe6qCB0AggUAIylBEgWDwBpXLH-C7ARsgc</recordid><startdate>20230201</startdate><enddate>20230201</enddate><creator>Aung, Nay</creator><creator>Lopes, Luis R.</creator><creator>van Duijvenboden, Stefan</creator><creator>Harper, Andrew R.</creator><creator>Goel, Anuj</creator><creator>Grace, Christopher</creator><creator>Ho, Carolyn Y.</creator><creator>Weintraub, William S.</creator><creator>Kramer, Christopher M.</creator><creator>Neubauer, Stefan</creator><creator>Watkins, Hugh C.</creator><creator>Petersen, Steffen E.</creator><creator>Munroe, Patricia B.</creator><general>Lippincott Williams & Wilkins</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>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-5327-0328</orcidid><orcidid>https://orcid.org/0000-0003-2057-7731</orcidid><orcidid>https://orcid.org/0000-0002-7334-7924</orcidid><orcidid>https://orcid.org/0000-0001-9017-5645</orcidid><orcidid>https://orcid.org/0000-0001-5095-1611</orcidid><orcidid>https://orcid.org/0000-0002-5384-5571</orcidid><orcidid>https://orcid.org/0000-0002-4176-2947</orcidid><orcidid>https://orcid.org/0000-0003-2307-4021</orcidid><orcidid>https://orcid.org/0000-0002-5287-9016</orcidid><orcidid>https://orcid.org/0000-0003-4622-5160</orcidid><orcidid>https://orcid.org/0000-0002-6408-4667</orcidid></search><sort><creationdate>20230201</creationdate><title>Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy</title><author>Aung, Nay ; Lopes, Luis R. ; van Duijvenboden, Stefan ; Harper, Andrew R. ; Goel, Anuj ; Grace, Christopher ; Ho, Carolyn Y. ; Weintraub, William S. ; Kramer, Christopher M. ; Neubauer, Stefan ; Watkins, Hugh C. ; Petersen, Steffen E. ; Munroe, Patricia B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4472-8c340675106b979bab65a71120c78a7c0d77ac51194b3b5bd9156be8f48fbc2f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Biological Specimen Banks</topic><topic>Cardiomyopathy, Hypertrophic - diagnosis</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Genome-Wide Association Study</topic><topic>Humans</topic><topic>Hypertrophy, Left Ventricular - diagnosis</topic><topic>Hypertrophy, Left Ventricular - genetics</topic><topic>Original</topic><topic>United Kingdom</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aung, Nay</creatorcontrib><creatorcontrib>Lopes, Luis R.</creatorcontrib><creatorcontrib>van Duijvenboden, Stefan</creatorcontrib><creatorcontrib>Harper, Andrew R.</creatorcontrib><creatorcontrib>Goel, Anuj</creatorcontrib><creatorcontrib>Grace, Christopher</creatorcontrib><creatorcontrib>Ho, Carolyn Y.</creatorcontrib><creatorcontrib>Weintraub, William S.</creatorcontrib><creatorcontrib>Kramer, Christopher M.</creatorcontrib><creatorcontrib>Neubauer, Stefan</creatorcontrib><creatorcontrib>Watkins, Hugh C.</creatorcontrib><creatorcontrib>Petersen, Steffen E.</creatorcontrib><creatorcontrib>Munroe, Patricia B.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Circulation. Genomic and precision medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aung, Nay</au><au>Lopes, Luis R.</au><au>van Duijvenboden, Stefan</au><au>Harper, Andrew R.</au><au>Goel, Anuj</au><au>Grace, Christopher</au><au>Ho, Carolyn Y.</au><au>Weintraub, William S.</au><au>Kramer, Christopher M.</au><au>Neubauer, Stefan</au><au>Watkins, Hugh C.</au><au>Petersen, Steffen E.</au><au>Munroe, Patricia B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy</atitle><jtitle>Circulation. Genomic and precision medicine</jtitle><addtitle>Circ Genom Precis Med</addtitle><date>2023-02-01</date><risdate>2023</risdate><volume>16</volume><issue>1</issue><spage>e003716</spage><epage>e003716</epage><pages>e003716-e003716</pages><issn>2574-8300</issn><eissn>2574-8300</eissn><abstract>Left ventricular maximum wall thickness (LVMWT) is an important biomarker of left ventricular hypertrophy and provides diagnostic and prognostic information in hypertrophic cardiomyopathy (HCM). Limited information is available on the genetic determinants of LVMWT.
We performed a genome-wide association study of LVMWT measured from the cardiovascular magnetic resonance examinations of 42 176 European individuals. We evaluated the genetic relationship between LVMWT and HCM by performing pairwise analysis using the data from the Hypertrophic Cardiomyopathy Registry in which the controls were randomly selected from UK Biobank individuals not included in the cardiovascular magnetic resonance sub-study.
Twenty-one genetic loci were discovered at
<5×10
. Several novel candidate genes were identified including
,
, and
, with known functional roles in myocardial growth and sarcomere organization. The LVMWT genetic risk score is predictive of HCM in the Hypertrophic Cardiomyopathy Registry (odds ratio per SD: 1.18 [95% CI, 1.13-1.23]) with pairwise analyses demonstrating a moderate genetic correlation (r
=0.53) and substantial loci overlap (19/21).
Our findings provide novel insights into the genetic underpinning of LVMWT and highlight its shared genetic background with HCM, supporting future endeavours to elucidate the genetic etiology of HCM.</abstract><cop>United States</cop><pub>Lippincott Williams & Wilkins</pub><pmid>36598836</pmid><doi>10.1161/CIRCGEN.122.003716</doi><orcidid>https://orcid.org/0000-0001-5327-0328</orcidid><orcidid>https://orcid.org/0000-0003-2057-7731</orcidid><orcidid>https://orcid.org/0000-0002-7334-7924</orcidid><orcidid>https://orcid.org/0000-0001-9017-5645</orcidid><orcidid>https://orcid.org/0000-0001-5095-1611</orcidid><orcidid>https://orcid.org/0000-0002-5384-5571</orcidid><orcidid>https://orcid.org/0000-0002-4176-2947</orcidid><orcidid>https://orcid.org/0000-0003-2307-4021</orcidid><orcidid>https://orcid.org/0000-0002-5287-9016</orcidid><orcidid>https://orcid.org/0000-0003-4622-5160</orcidid><orcidid>https://orcid.org/0000-0002-6408-4667</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Alma/SFX Local Collection; American Heart Association |
| subjects | Biological Specimen Banks Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Genome-Wide Association Study Humans Hypertrophy, Left Ventricular - diagnosis Hypertrophy, Left Ventricular - genetics Original United Kingdom |
| title | Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy |
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