Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11
Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations. In thi...
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| description | Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations.
In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.
The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.
The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations. |
| doi_str_mv | 10.1371/journal.pone.0134840 |
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In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.
The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.
The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0134840</identifier><identifier>PMID: 26252781</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>African Continental Ancestry Group - genetics ; Asian Continental Ancestry Group - genetics ; Biodiversity ; Biology ; Cardiovascular disease ; Care and treatment ; Chromosomes, Human, Pair 10 - genetics ; Chromosomes, Human, Pair 9 - genetics ; Coronary artery ; Coronary artery disease ; Coronary Artery Disease - genetics ; Coronary diseases ; Coronary heart disease ; Coronary vessels ; Demography ; Development and progression ; Diabetes ; European Continental Ancestry Group - genetics ; Factors de risc en les malalties ; Gene Frequency - genetics ; Genes ; Genetic aspects ; Genetic diversity ; Genetic Loci ; Genetic Predisposition to Disease ; Genetic variability ; Genetic Variation ; Genetics ; Genetics, Population ; Genome, Human ; Genomes ; Genomics ; Geography ; Health risks ; Heart attacks ; Heart diseases ; Heterozygote ; Human populations ; Humans ; Hypertension ; Linkage Disequilibrium - genetics ; Malalties coronàries ; Markers ; Minority & ethnic groups ; Mutation ; Natural selection ; Polymorphism, Single Nucleotide - genetics ; Population ; Populations ; Positive selection ; Principal Component Analysis ; Quality Control ; Risk ; Risk Factors ; Risk factors in diseases ; Selecció natural ; Selection, Genetic ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Surveys</subject><ispartof>PloS one, 2015-08, Vol.10 (8), p.e0134840-e0134840</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Zanetti et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>cc-by (c) Zanetti, D. et al., 2015 info:eu-repo/semantics/openAccess <a href="http://creativecommons.org/licenses/by/3.0/es">http://creativecommons.org/licenses/by/3.0/es</a></rights><rights>2015 Zanetti et al 2015 Zanetti et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c734t-1e59b0cae96be1e18dd0fcdbc3de06279bec228199b478a00962494dfafa559c3</citedby><cites>FETCH-LOGICAL-c734t-1e59b0cae96be1e18dd0fcdbc3de06279bec228199b478a00962494dfafa559c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529309/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4529309/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,861,882,2096,2915,23847,26955,27905,27906,53772,53774,79349,79350</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26252781$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Pereira, Luísa Maria Sousa Mesquita</contributor><creatorcontrib>Zanetti, Daniela</creatorcontrib><creatorcontrib>Carreras-Torres, Robert</creatorcontrib><creatorcontrib>Esteban, Esther</creatorcontrib><creatorcontrib>Via, Marc</creatorcontrib><creatorcontrib>Moral, Pedro</creatorcontrib><title>Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations.
In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.
The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.
The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.</description><subject>African Continental Ancestry Group - genetics</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biodiversity</subject><subject>Biology</subject><subject>Cardiovascular disease</subject><subject>Care and treatment</subject><subject>Chromosomes, Human, Pair 10 - genetics</subject><subject>Chromosomes, Human, Pair 9 - genetics</subject><subject>Coronary artery</subject><subject>Coronary artery disease</subject><subject>Coronary Artery Disease - genetics</subject><subject>Coronary diseases</subject><subject>Coronary heart disease</subject><subject>Coronary vessels</subject><subject>Demography</subject><subject>Development and progression</subject><subject>Diabetes</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Factors de risc en les malalties</subject><subject>Gene Frequency - genetics</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic diversity</subject><subject>Genetic Loci</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic variability</subject><subject>Genetic Variation</subject><subject>Genetics</subject><subject>Genetics, Population</subject><subject>Genome, Human</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Geography</subject><subject>Health risks</subject><subject>Heart attacks</subject><subject>Heart diseases</subject><subject>Heterozygote</subject><subject>Human populations</subject><subject>Humans</subject><subject>Hypertension</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Malalties coronàries</subject><subject>Markers</subject><subject>Minority & ethnic groups</subject><subject>Mutation</subject><subject>Natural selection</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population</subject><subject>Populations</subject><subject>Positive selection</subject><subject>Principal Component Analysis</subject><subject>Quality Control</subject><subject>Risk</subject><subject>Risk Factors</subject><subject>Risk factors in diseases</subject><subject>Selecció natural</subject><subject>Selection, Genetic</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide 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Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11</title><author>Zanetti, Daniela ; Carreras-Torres, Robert ; Esteban, Esther ; Via, Marc ; Moral, Pedro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c734t-1e59b0cae96be1e18dd0fcdbc3de06279bec228199b478a00962494dfafa559c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>African Continental Ancestry Group - genetics</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biodiversity</topic><topic>Biology</topic><topic>Cardiovascular disease</topic><topic>Care and treatment</topic><topic>Chromosomes, Human, Pair 10 - genetics</topic><topic>Chromosomes, Human, Pair 9 - genetics</topic><topic>Coronary artery</topic><topic>Coronary artery disease</topic><topic>Coronary Artery Disease - genetics</topic><topic>Coronary diseases</topic><topic>Coronary heart disease</topic><topic>Coronary vessels</topic><topic>Demography</topic><topic>Development and progression</topic><topic>Diabetes</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Factors de risc en les malalties</topic><topic>Gene Frequency - genetics</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic diversity</topic><topic>Genetic Loci</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic variability</topic><topic>Genetic Variation</topic><topic>Genetics</topic><topic>Genetics, Population</topic><topic>Genome, Human</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Geography</topic><topic>Health risks</topic><topic>Heart attacks</topic><topic>Heart diseases</topic><topic>Heterozygote</topic><topic>Human populations</topic><topic>Humans</topic><topic>Hypertension</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Malalties coronàries</topic><topic>Markers</topic><topic>Minority & ethnic 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Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2015-08-07</date><risdate>2015</risdate><volume>10</volume><issue>8</issue><spage>e0134840</spage><epage>e0134840</epage><pages>e0134840-e0134840</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations.
In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.
The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.
The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>26252781</pmid><doi>10.1371/journal.pone.0134840</doi><tpages>21</tpages><oa>free_for_read</oa></addata></record> |
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| issn | 1932-6203 1932-6203 |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS); Recercat; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | African Continental Ancestry Group - genetics Asian Continental Ancestry Group - genetics Biodiversity Biology Cardiovascular disease Care and treatment Chromosomes, Human, Pair 10 - genetics Chromosomes, Human, Pair 9 - genetics Coronary artery Coronary artery disease Coronary Artery Disease - genetics Coronary diseases Coronary heart disease Coronary vessels Demography Development and progression Diabetes European Continental Ancestry Group - genetics Factors de risc en les malalties Gene Frequency - genetics Genes Genetic aspects Genetic diversity Genetic Loci Genetic Predisposition to Disease Genetic variability Genetic Variation Genetics Genetics, Population Genome, Human Genomes Genomics Geography Health risks Heart attacks Heart diseases Heterozygote Human populations Humans Hypertension Linkage Disequilibrium - genetics Malalties coronàries Markers Minority & ethnic groups Mutation Natural selection Polymorphism, Single Nucleotide - genetics Population Populations Positive selection Principal Component Analysis Quality Control Risk Risk Factors Risk factors in diseases Selecció natural Selection, Genetic Single nucleotide polymorphisms Single-nucleotide polymorphism Surveys |
| title | Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T04%3A13%3A16IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Potential%20Signals%20of%20Natural%20Selection%20in%20the%20Top%20Risk%20Loci%20for%20Coronary%20Artery%20Disease:%209p21%20and%2010q11&rft.jtitle=PloS%20one&rft.au=Zanetti,%20Daniela&rft.date=2015-08-07&rft.volume=10&rft.issue=8&rft.spage=e0134840&rft.epage=e0134840&rft.pages=e0134840-e0134840&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0134840&rft_dat=%3Cgale_plos_%3EA432850698%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1702213207&rft_id=info:pmid/26252781&rft_galeid=A432850698&rft_doaj_id=oai_doaj_org_article_b90e28a665794b4799bcedb5bb614598&rfr_iscdi=true |