Association of DIAPH1 gene polymorphisms with ischemic stroke
DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke case...
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Veröffentlicht in: | Aging (Albany, NY.) NY.), 2020-01, Vol.12 (1), p.416-435 |
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description | DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of
single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke cases [2,212 ischemic stroke (IS), 754 hemorrhagic stroke (HS)] and 2,590 controls were enrolled respectively in the case-control study. A total of 4,098 individual were included in the cohort study.
mRNA expression was compared between 66 IS [43 small artery occlusion (SAO) and 23 large-artery atherosclerosis (LAA)] and 58 controls. Odds ratio (
), hazard ratio (
) and 95% confidence interval (
) were calculated by logistic and cox regression analysis. Rs7703688 T>C variation was significantly associated with an increased risk of IS [
(95%
) was 1.721 (1.486-1.993),
=4.139×10
]. Association of rs7703688 with stroke risk was further validated in the cohort study [adjusted
(95%
s) for additive and recessive models were 1.385 (1.001-1.918),
=0.049, and 2.882 (1.038-8.004),
=0.042, respectively)].
mRNA expression was significantly downregulated in IS. In SAO stroke subtype,
expression has an increased trend among rs251019 genotypes (
=0.048). These novel findings suggest that
variation contributes to genetic susceptibility to stroke risk, especially the SAO subtype of IS. |
doi_str_mv | 10.18632/aging.102631 |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6977662</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2333606502</sourcerecordid><originalsourceid>FETCH-LOGICAL-c387t-3c29e511eadeb0cfb34d4e5c9abcfa968446ac5db0311a474bccd04f8a35de5e3</originalsourceid><addsrcrecordid>eNpVkD1PwzAQhi0EoqUwsqKMLCl2_JFkAKkqH61UCQaYLce5JIYkLnYK6r8ntKUq0510j967exC6JHhMEkGjG1WathwTHAlKjtCQpIyHjCfp8UE_QGfev2MsOGfiFA0oSdJUJGKIbifeW21UZ2wb2CK4n09eZiQooYVgaet1Y92yMr7xwbfpqsB4XUFjdOA7Zz_gHJ0UqvZwsasj9Pb48DqdhYvnp_l0sgg1TeIupDpKgRMCKocM6yKjLGfAdaoyXaj-EMaE0jzPMCVEsZhlWueYFYmiPAcOdITutrnLVdZArqHtnKrl0plGubW0ysj_k9ZUsrRfUqRxLETUB1zvApz9XIHvZNO_AnWtWrArLyNKqej14F803KLaWe8dFPs1BMuNcrlRLrfKe_7q8LY9_eeY_gD8On9u</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2333606502</pqid></control><display><type>article</type><title>Association of DIAPH1 gene polymorphisms with ischemic stroke</title><source>MEDLINE</source><source>PubMed Central Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><creator>Ren, Zhanyun ; Chen, Xiaotian ; Tang, Wuzhuang ; Li, Jie ; Yang, Song ; Chen, Yanchun ; Zhao, Xianghai ; Zong, Huihua ; Liu, Chunlan ; Shen, Chong</creator><creatorcontrib>Ren, Zhanyun ; Chen, Xiaotian ; Tang, Wuzhuang ; Li, Jie ; Yang, Song ; Chen, Yanchun ; Zhao, Xianghai ; Zong, Huihua ; Liu, Chunlan ; Shen, Chong</creatorcontrib><description>DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of
single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke cases [2,212 ischemic stroke (IS), 754 hemorrhagic stroke (HS)] and 2,590 controls were enrolled respectively in the case-control study. A total of 4,098 individual were included in the cohort study.
mRNA expression was compared between 66 IS [43 small artery occlusion (SAO) and 23 large-artery atherosclerosis (LAA)] and 58 controls. Odds ratio (
), hazard ratio (
) and 95% confidence interval (
) were calculated by logistic and cox regression analysis. Rs7703688 T>C variation was significantly associated with an increased risk of IS [
(95%
) was 1.721 (1.486-1.993),
=4.139×10
]. Association of rs7703688 with stroke risk was further validated in the cohort study [adjusted
(95%
s) for additive and recessive models were 1.385 (1.001-1.918),
=0.049, and 2.882 (1.038-8.004),
=0.042, respectively)].
mRNA expression was significantly downregulated in IS. In SAO stroke subtype,
expression has an increased trend among rs251019 genotypes (
=0.048). These novel findings suggest that
variation contributes to genetic susceptibility to stroke risk, especially the SAO subtype of IS.</description><identifier>ISSN: 1945-4589</identifier><identifier>EISSN: 1945-4589</identifier><identifier>DOI: 10.18632/aging.102631</identifier><identifier>PMID: 31899686</identifier><language>eng</language><publisher>United States: Impact Journals</publisher><subject>Alleles ; Case-Control Studies ; Comorbidity ; Female ; Formins - genetics ; Gene Expression ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypertension - complications ; Hypertension - genetics ; Ischemic Stroke - diagnosis ; Ischemic Stroke - epidemiology ; Ischemic Stroke - genetics ; Male ; Polymorphism, Single Nucleotide ; Research Paper ; RNA, Messenger</subject><ispartof>Aging (Albany, NY.), 2020-01, Vol.12 (1), p.416-435</ispartof><rights>Copyright © 2020 Ren et al.</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-3c29e511eadeb0cfb34d4e5c9abcfa968446ac5db0311a474bccd04f8a35de5e3</citedby><cites>FETCH-LOGICAL-c387t-3c29e511eadeb0cfb34d4e5c9abcfa968446ac5db0311a474bccd04f8a35de5e3</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/PMC6977662/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977662/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31899686$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ren, Zhanyun</creatorcontrib><creatorcontrib>Chen, Xiaotian</creatorcontrib><creatorcontrib>Tang, Wuzhuang</creatorcontrib><creatorcontrib>Li, Jie</creatorcontrib><creatorcontrib>Yang, Song</creatorcontrib><creatorcontrib>Chen, Yanchun</creatorcontrib><creatorcontrib>Zhao, Xianghai</creatorcontrib><creatorcontrib>Zong, Huihua</creatorcontrib><creatorcontrib>Liu, Chunlan</creatorcontrib><creatorcontrib>Shen, Chong</creatorcontrib><title>Association of DIAPH1 gene polymorphisms with ischemic stroke</title><title>Aging (Albany, NY.)</title><addtitle>Aging (Albany NY)</addtitle><description>DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of
single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke cases [2,212 ischemic stroke (IS), 754 hemorrhagic stroke (HS)] and 2,590 controls were enrolled respectively in the case-control study. A total of 4,098 individual were included in the cohort study.
mRNA expression was compared between 66 IS [43 small artery occlusion (SAO) and 23 large-artery atherosclerosis (LAA)] and 58 controls. Odds ratio (
), hazard ratio (
) and 95% confidence interval (
) were calculated by logistic and cox regression analysis. Rs7703688 T>C variation was significantly associated with an increased risk of IS [
(95%
) was 1.721 (1.486-1.993),
=4.139×10
]. Association of rs7703688 with stroke risk was further validated in the cohort study [adjusted
(95%
s) for additive and recessive models were 1.385 (1.001-1.918),
=0.049, and 2.882 (1.038-8.004),
=0.042, respectively)].
mRNA expression was significantly downregulated in IS. In SAO stroke subtype,
expression has an increased trend among rs251019 genotypes (
=0.048). These novel findings suggest that
variation contributes to genetic susceptibility to stroke risk, especially the SAO subtype of IS.</description><subject>Alleles</subject><subject>Case-Control Studies</subject><subject>Comorbidity</subject><subject>Female</subject><subject>Formins - genetics</subject><subject>Gene Expression</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Hypertension - complications</subject><subject>Hypertension - genetics</subject><subject>Ischemic Stroke - diagnosis</subject><subject>Ischemic Stroke - epidemiology</subject><subject>Ischemic Stroke - genetics</subject><subject>Male</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Research Paper</subject><subject>RNA, Messenger</subject><issn>1945-4589</issn><issn>1945-4589</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkD1PwzAQhi0EoqUwsqKMLCl2_JFkAKkqH61UCQaYLce5JIYkLnYK6r8ntKUq0510j967exC6JHhMEkGjG1WathwTHAlKjtCQpIyHjCfp8UE_QGfev2MsOGfiFA0oSdJUJGKIbifeW21UZ2wb2CK4n09eZiQooYVgaet1Y92yMr7xwbfpqsB4XUFjdOA7Zz_gHJ0UqvZwsasj9Pb48DqdhYvnp_l0sgg1TeIupDpKgRMCKocM6yKjLGfAdaoyXaj-EMaE0jzPMCVEsZhlWueYFYmiPAcOdITutrnLVdZArqHtnKrl0plGubW0ysj_k9ZUsrRfUqRxLETUB1zvApz9XIHvZNO_AnWtWrArLyNKqej14F803KLaWe8dFPs1BMuNcrlRLrfKe_7q8LY9_eeY_gD8On9u</recordid><startdate>20200103</startdate><enddate>20200103</enddate><creator>Ren, Zhanyun</creator><creator>Chen, Xiaotian</creator><creator>Tang, Wuzhuang</creator><creator>Li, Jie</creator><creator>Yang, Song</creator><creator>Chen, Yanchun</creator><creator>Zhao, Xianghai</creator><creator>Zong, Huihua</creator><creator>Liu, Chunlan</creator><creator>Shen, Chong</creator><general>Impact Journals</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></search><sort><creationdate>20200103</creationdate><title>Association of DIAPH1 gene polymorphisms with ischemic stroke</title><author>Ren, Zhanyun ; Chen, Xiaotian ; Tang, Wuzhuang ; Li, Jie ; Yang, Song ; Chen, Yanchun ; Zhao, Xianghai ; Zong, Huihua ; Liu, Chunlan ; Shen, Chong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-3c29e511eadeb0cfb34d4e5c9abcfa968446ac5db0311a474bccd04f8a35de5e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Case-Control Studies</topic><topic>Comorbidity</topic><topic>Female</topic><topic>Formins - genetics</topic><topic>Gene Expression</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Humans</topic><topic>Hypertension - complications</topic><topic>Hypertension - genetics</topic><topic>Ischemic Stroke - diagnosis</topic><topic>Ischemic Stroke - epidemiology</topic><topic>Ischemic Stroke - genetics</topic><topic>Male</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Research Paper</topic><topic>RNA, Messenger</topic><toplevel>online_resources</toplevel><creatorcontrib>Ren, Zhanyun</creatorcontrib><creatorcontrib>Chen, Xiaotian</creatorcontrib><creatorcontrib>Tang, Wuzhuang</creatorcontrib><creatorcontrib>Li, Jie</creatorcontrib><creatorcontrib>Yang, Song</creatorcontrib><creatorcontrib>Chen, Yanchun</creatorcontrib><creatorcontrib>Zhao, Xianghai</creatorcontrib><creatorcontrib>Zong, Huihua</creatorcontrib><creatorcontrib>Liu, Chunlan</creatorcontrib><creatorcontrib>Shen, Chong</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>Aging (Albany, NY.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ren, Zhanyun</au><au>Chen, Xiaotian</au><au>Tang, Wuzhuang</au><au>Li, Jie</au><au>Yang, Song</au><au>Chen, Yanchun</au><au>Zhao, Xianghai</au><au>Zong, Huihua</au><au>Liu, Chunlan</au><au>Shen, Chong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of DIAPH1 gene polymorphisms with ischemic stroke</atitle><jtitle>Aging (Albany, NY.)</jtitle><addtitle>Aging (Albany NY)</addtitle><date>2020-01-03</date><risdate>2020</risdate><volume>12</volume><issue>1</issue><spage>416</spage><epage>435</epage><pages>416-435</pages><issn>1945-4589</issn><eissn>1945-4589</eissn><abstract>DIAPH1 is a formin protein involved in actin polymerization with important roles in vascular remodeling and thrombosis. To investigate potential associations of
single-nucleotide polymorphisms (SNPs) with hypertension and stroke, 2,012 patients with hypertension and 2,210 controls, 2,966 stroke cases [2,212 ischemic stroke (IS), 754 hemorrhagic stroke (HS)] and 2,590 controls were enrolled respectively in the case-control study. A total of 4,098 individual were included in the cohort study.
mRNA expression was compared between 66 IS [43 small artery occlusion (SAO) and 23 large-artery atherosclerosis (LAA)] and 58 controls. Odds ratio (
), hazard ratio (
) and 95% confidence interval (
) were calculated by logistic and cox regression analysis. Rs7703688 T>C variation was significantly associated with an increased risk of IS [
(95%
) was 1.721 (1.486-1.993),
=4.139×10
]. Association of rs7703688 with stroke risk was further validated in the cohort study [adjusted
(95%
s) for additive and recessive models were 1.385 (1.001-1.918),
=0.049, and 2.882 (1.038-8.004),
=0.042, respectively)].
mRNA expression was significantly downregulated in IS. In SAO stroke subtype,
expression has an increased trend among rs251019 genotypes (
=0.048). These novel findings suggest that
variation contributes to genetic susceptibility to stroke risk, especially the SAO subtype of IS.</abstract><cop>United States</cop><pub>Impact Journals</pub><pmid>31899686</pmid><doi>10.18632/aging.102631</doi><tpages>20</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Case-Control Studies Comorbidity Female Formins - genetics Gene Expression Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Hypertension - complications Hypertension - genetics Ischemic Stroke - diagnosis Ischemic Stroke - epidemiology Ischemic Stroke - genetics Male Polymorphism, Single Nucleotide Research Paper RNA, Messenger |
title | Association of DIAPH1 gene polymorphisms with ischemic stroke |
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