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Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia
Background Recent genomewide association studies have revealed an association between two single nucleotide polymorphisms, rs11833579 and rs12425791, and ischemic stroke. Aim To gain more insight in pathophysiological mechanisms underlying the found associations by exploring relationships between th...
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| Published in: | International journal of stroke 2012-04, Vol.7 (3), p.219-223 |
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| container_end_page | 223 |
| container_issue | 3 |
| container_start_page | 219 |
| container_title | International journal of stroke |
| container_volume | 7 |
| creator | van den Herik, Evita G. de Lau, Lonneke M. L. Mohamad, Arezo Ikram, M. Arfan Koudstaal, Peter J. |
| description | Background
Recent genomewide association studies have revealed an association between two single nucleotide polymorphisms, rs11833579 and rs12425791, and ischemic stroke.
Aim
To gain more insight in pathophysiological mechanisms underlying the found associations by exploring relationships between these single nucleotide polymorphisms and clinical and radiological characteristics of patients with cerebral ischemia.
Methods
Our cohort consisted of 660 Caucasian patients with cerebral ischemia; from all patients detailed clinical and radiological data were available. Etiologic subtype of cerebral ischemia was determined according to the TOAST classification and an alternative classification. We studied associations between risk alleles and etiologic subtype, duration of ischemia, occurrence of multiple events, functional outcome and findings on CT-angiography by means of logistic regression analysis.
Results
The risk allele of rs11833579 was associated with an atherothrombotic etiology of cerebral ischemia, but not with other etiologic subtypes. Risk alleles of both single nucleotide polymorphisms were related to events of shorter duration (>24 ***h), the risk allele of rs11833579 with occurrence of multiple events. There was no association between single nucleotide polymorphism and clinical outcome. Both single nucleotide polymorphisms were associated with presence of stenotic calcifications and stenosis # |
| doi_str_mv | 10.1111/j.1747-4949.2011.00658.x |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_968172134</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sage_id>10.1111_j.1747-4949.2011.00658.x</sage_id><sourcerecordid>927831339</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4838-32c06ebd0e1d651a8e6a23cf15743640665802fdaa557e3a2cedb09d92b665053</originalsourceid><addsrcrecordid>eNqNUU1v1DAQtRCIlsJfQL5xSrDjOI4lLqWCbVFFDxSQuFiOM9n1ksTBTrS7d344TtOuuLW-eDTvY0bzEMKUpDS-99uUilwkucxlmhFKU0IKXqb7Z-j0CDw_1oycoFchbAnJuWDFS3SSzSJC5Sn6ex6CM1aP1vXYNXjcORxsv24B95NpwY22Bjy49tA5P2xs6AJuvOvwGnrXwW5G9X8WYZxqCwHv7LjBprW9NbrFwyayx8MQgTjDgIfKx7YNZgOd1a_Ri0a3Ad7c_2fo--dPtxeXyfXN6uri_DoxecnKhGWGFFDVBGhdcKpLKHTGTEO5yFmRkyLegGRNrTXnApjODNQVkbXMqggRzs7Qu8V38O7PBGFUXVwB2lb34KagZFFSkVGWP87MRMkoYzIyy4VpvAvBQ6MGbzvtD4oSNYeltmrOQc2ZqPnu6i4stY_St_dDpqqD-ih8SCcSPiyEnW3h8GRjdfXlWyyinC_yoNegtm7yfbzuU_ZKFp0NI-yPY7X_rQrBBFc_v67Ux9uV_CXppfrB_gGVn8Tk</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>927831339</pqid></control><display><type>article</type><title>Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia</title><source>SAGE:Jisc Collections:SAGE Journals Read and Publish 2023-2024:2025 extension (reading list)</source><creator>van den Herik, Evita G. ; de Lau, Lonneke M. L. ; Mohamad, Arezo ; Ikram, M. Arfan ; Koudstaal, Peter J.</creator><creatorcontrib>van den Herik, Evita G. ; de Lau, Lonneke M. L. ; Mohamad, Arezo ; Ikram, M. Arfan ; Koudstaal, Peter J.</creatorcontrib><description>Background
Recent genomewide association studies have revealed an association between two single nucleotide polymorphisms, rs11833579 and rs12425791, and ischemic stroke.
Aim
To gain more insight in pathophysiological mechanisms underlying the found associations by exploring relationships between these single nucleotide polymorphisms and clinical and radiological characteristics of patients with cerebral ischemia.
Methods
Our cohort consisted of 660 Caucasian patients with cerebral ischemia; from all patients detailed clinical and radiological data were available. Etiologic subtype of cerebral ischemia was determined according to the TOAST classification and an alternative classification. We studied associations between risk alleles and etiologic subtype, duration of ischemia, occurrence of multiple events, functional outcome and findings on CT-angiography by means of logistic regression analysis.
Results
The risk allele of rs11833579 was associated with an atherothrombotic etiology of cerebral ischemia, but not with other etiologic subtypes. Risk alleles of both single nucleotide polymorphisms were related to events of shorter duration (>24 ***h), the risk allele of rs11833579 with occurrence of multiple events. There was no association between single nucleotide polymorphism and clinical outcome. Both single nucleotide polymorphisms were associated with presence of stenotic calcifications and stenosis #<30% in a symptomatic artery on CT-angiography.
Conclusions
This is the first study to show an association of rs11833579 with multiple episodes of cerebral ischemia of atherothrombotic origin, and of rs11833579 and rs12425791 with short duration of ischemia. Also, we found an association of both single nucleotide polymorphisms with atherosclerotic lesions in the extracranial vessels on CT-angiography. Together this suggests a relationship between the two single nucleotide polymorphisms and large artery pathology.</description><identifier>ISSN: 1747-4930</identifier><identifier>EISSN: 1747-4949</identifier><identifier>DOI: 10.1111/j.1747-4949.2011.00658.x</identifier><identifier>PMID: 22011019</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Aged ; Arteries ; Arteriosclerosis ; Brain Ischemia - epidemiology ; Brain Ischemia - genetics ; Calcification ; Classification ; Cohort Studies ; CT-angiography ; Data processing ; Etiology ; Female ; genetic association ; Genome-Wide Association Study ; Humans ; Ischemia ; ischemic stroke ; Male ; Middle Aged ; Phenotype ; Polymorphism, Single Nucleotide ; Prospective Studies ; Regression analysis ; Single-nucleotide polymorphism ; Stenosis ; Stroke</subject><ispartof>International journal of stroke, 2012-04, Vol.7 (3), p.219-223</ispartof><rights>2012 The Authors</rights><rights>2011 The Authors. International Journal of Stroke © 2011 World Stroke Organization</rights><rights>2011 The Authors. International Journal of Stroke © 2011 World Stroke Organization.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4838-32c06ebd0e1d651a8e6a23cf15743640665802fdaa557e3a2cedb09d92b665053</citedby><cites>FETCH-LOGICAL-c4838-32c06ebd0e1d651a8e6a23cf15743640665802fdaa557e3a2cedb09d92b665053</cites></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/22011019$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>van den Herik, Evita G.</creatorcontrib><creatorcontrib>de Lau, Lonneke M. L.</creatorcontrib><creatorcontrib>Mohamad, Arezo</creatorcontrib><creatorcontrib>Ikram, M. Arfan</creatorcontrib><creatorcontrib>Koudstaal, Peter J.</creatorcontrib><title>Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia</title><title>International journal of stroke</title><addtitle>Int J Stroke</addtitle><description>Background
Recent genomewide association studies have revealed an association between two single nucleotide polymorphisms, rs11833579 and rs12425791, and ischemic stroke.
Aim
To gain more insight in pathophysiological mechanisms underlying the found associations by exploring relationships between these single nucleotide polymorphisms and clinical and radiological characteristics of patients with cerebral ischemia.
Methods
Our cohort consisted of 660 Caucasian patients with cerebral ischemia; from all patients detailed clinical and radiological data were available. Etiologic subtype of cerebral ischemia was determined according to the TOAST classification and an alternative classification. We studied associations between risk alleles and etiologic subtype, duration of ischemia, occurrence of multiple events, functional outcome and findings on CT-angiography by means of logistic regression analysis.
Results
The risk allele of rs11833579 was associated with an atherothrombotic etiology of cerebral ischemia, but not with other etiologic subtypes. Risk alleles of both single nucleotide polymorphisms were related to events of shorter duration (>24 ***h), the risk allele of rs11833579 with occurrence of multiple events. There was no association between single nucleotide polymorphism and clinical outcome. Both single nucleotide polymorphisms were associated with presence of stenotic calcifications and stenosis #<30% in a symptomatic artery on CT-angiography.
Conclusions
This is the first study to show an association of rs11833579 with multiple episodes of cerebral ischemia of atherothrombotic origin, and of rs11833579 and rs12425791 with short duration of ischemia. Also, we found an association of both single nucleotide polymorphisms with atherosclerotic lesions in the extracranial vessels on CT-angiography. Together this suggests a relationship between the two single nucleotide polymorphisms and large artery pathology.</description><subject>Aged</subject><subject>Arteries</subject><subject>Arteriosclerosis</subject><subject>Brain Ischemia - epidemiology</subject><subject>Brain Ischemia - genetics</subject><subject>Calcification</subject><subject>Classification</subject><subject>Cohort Studies</subject><subject>CT-angiography</subject><subject>Data processing</subject><subject>Etiology</subject><subject>Female</subject><subject>genetic association</subject><subject>Genome-Wide Association Study</subject><subject>Humans</subject><subject>Ischemia</subject><subject>ischemic stroke</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Phenotype</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Prospective Studies</subject><subject>Regression analysis</subject><subject>Single-nucleotide polymorphism</subject><subject>Stenosis</subject><subject>Stroke</subject><issn>1747-4930</issn><issn>1747-4949</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><recordid>eNqNUU1v1DAQtRCIlsJfQL5xSrDjOI4lLqWCbVFFDxSQuFiOM9n1ksTBTrS7d344TtOuuLW-eDTvY0bzEMKUpDS-99uUilwkucxlmhFKU0IKXqb7Z-j0CDw_1oycoFchbAnJuWDFS3SSzSJC5Sn6ex6CM1aP1vXYNXjcORxsv24B95NpwY22Bjy49tA5P2xs6AJuvOvwGnrXwW5G9X8WYZxqCwHv7LjBprW9NbrFwyayx8MQgTjDgIfKx7YNZgOd1a_Ri0a3Ad7c_2fo--dPtxeXyfXN6uri_DoxecnKhGWGFFDVBGhdcKpLKHTGTEO5yFmRkyLegGRNrTXnApjODNQVkbXMqggRzs7Qu8V38O7PBGFUXVwB2lb34KagZFFSkVGWP87MRMkoYzIyy4VpvAvBQ6MGbzvtD4oSNYeltmrOQc2ZqPnu6i4stY_St_dDpqqD-ih8SCcSPiyEnW3h8GRjdfXlWyyinC_yoNegtm7yfbzuU_ZKFp0NI-yPY7X_rQrBBFc_v67Ux9uV_CXppfrB_gGVn8Tk</recordid><startdate>201204</startdate><enddate>201204</enddate><creator>van den Herik, Evita G.</creator><creator>de Lau, Lonneke M. L.</creator><creator>Mohamad, Arezo</creator><creator>Ikram, M. Arfan</creator><creator>Koudstaal, Peter J.</creator><general>Blackwell Publishing Ltd</general><general>SAGE Publications</general><scope>BSCLL</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>7X8</scope><scope>7TK</scope><scope>7TM</scope></search><sort><creationdate>201204</creationdate><title>Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia</title><author>van den Herik, Evita G. ; de Lau, Lonneke M. L. ; Mohamad, Arezo ; Ikram, M. Arfan ; Koudstaal, Peter J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4838-32c06ebd0e1d651a8e6a23cf15743640665802fdaa557e3a2cedb09d92b665053</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Aged</topic><topic>Arteries</topic><topic>Arteriosclerosis</topic><topic>Brain Ischemia - epidemiology</topic><topic>Brain Ischemia - genetics</topic><topic>Calcification</topic><topic>Classification</topic><topic>Cohort Studies</topic><topic>CT-angiography</topic><topic>Data processing</topic><topic>Etiology</topic><topic>Female</topic><topic>genetic association</topic><topic>Genome-Wide Association Study</topic><topic>Humans</topic><topic>Ischemia</topic><topic>ischemic stroke</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Phenotype</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Prospective Studies</topic><topic>Regression analysis</topic><topic>Single-nucleotide polymorphism</topic><topic>Stenosis</topic><topic>Stroke</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>van den Herik, Evita G.</creatorcontrib><creatorcontrib>de Lau, Lonneke M. L.</creatorcontrib><creatorcontrib>Mohamad, Arezo</creatorcontrib><creatorcontrib>Ikram, M. Arfan</creatorcontrib><creatorcontrib>Koudstaal, Peter J.</creatorcontrib><collection>Istex</collection><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>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><jtitle>International journal of stroke</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van den Herik, Evita G.</au><au>de Lau, Lonneke M. L.</au><au>Mohamad, Arezo</au><au>Ikram, M. Arfan</au><au>Koudstaal, Peter J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia</atitle><jtitle>International journal of stroke</jtitle><addtitle>Int J Stroke</addtitle><date>2012-04</date><risdate>2012</risdate><volume>7</volume><issue>3</issue><spage>219</spage><epage>223</epage><pages>219-223</pages><issn>1747-4930</issn><eissn>1747-4949</eissn><abstract>Background
Recent genomewide association studies have revealed an association between two single nucleotide polymorphisms, rs11833579 and rs12425791, and ischemic stroke.
Aim
To gain more insight in pathophysiological mechanisms underlying the found associations by exploring relationships between these single nucleotide polymorphisms and clinical and radiological characteristics of patients with cerebral ischemia.
Methods
Our cohort consisted of 660 Caucasian patients with cerebral ischemia; from all patients detailed clinical and radiological data were available. Etiologic subtype of cerebral ischemia was determined according to the TOAST classification and an alternative classification. We studied associations between risk alleles and etiologic subtype, duration of ischemia, occurrence of multiple events, functional outcome and findings on CT-angiography by means of logistic regression analysis.
Results
The risk allele of rs11833579 was associated with an atherothrombotic etiology of cerebral ischemia, but not with other etiologic subtypes. Risk alleles of both single nucleotide polymorphisms were related to events of shorter duration (>24 ***h), the risk allele of rs11833579 with occurrence of multiple events. There was no association between single nucleotide polymorphism and clinical outcome. Both single nucleotide polymorphisms were associated with presence of stenotic calcifications and stenosis #<30% in a symptomatic artery on CT-angiography.
Conclusions
This is the first study to show an association of rs11833579 with multiple episodes of cerebral ischemia of atherothrombotic origin, and of rs11833579 and rs12425791 with short duration of ischemia. Also, we found an association of both single nucleotide polymorphisms with atherosclerotic lesions in the extracranial vessels on CT-angiography. Together this suggests a relationship between the two single nucleotide polymorphisms and large artery pathology.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>22011019</pmid><doi>10.1111/j.1747-4949.2011.00658.x</doi><tpages>5</tpages></addata></record> |
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| ispartof | International journal of stroke, 2012-04, Vol.7 (3), p.219-223 |
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| source | SAGE:Jisc Collections:SAGE Journals Read and Publish 2023-2024:2025 extension (reading list) |
| subjects | Aged Arteries Arteriosclerosis Brain Ischemia - epidemiology Brain Ischemia - genetics Calcification Classification Cohort Studies CT-angiography Data processing Etiology Female genetic association Genome-Wide Association Study Humans Ischemia ischemic stroke Male Middle Aged Phenotype Polymorphism, Single Nucleotide Prospective Studies Regression analysis Single-nucleotide polymorphism Stenosis Stroke |
| title | Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia |
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