Lack of Association of the 3′-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population
Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor ISL1 is a marker for undifferentiated cardiac progenitor cells that...
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| Veröffentlicht in: | Pediatric cardiology 2013-04, Vol.34 (4), p.938-941 |
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| creator | Cresci, Monica Vecoli, Cecilia Foffa, Ilenia Pulignani, Silvia Ait-Ali, Lamia Andreassi, Maria Grazia |
| description | Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor
ISL1
is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the
ISL1
rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the
ISL1
rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case–control study design, 309 patients with CHD (197 men [age 21.3 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 21.3]) were genotyped for the
ISL1
rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the
ISL1
rs1017 polymorphism was not associated with the risk of CHD neither overall (
p
= 0.7) nor stratifying the population by sex and CHD classification. In conclusion,
ISL1
common variant rs1017 is not associated with increased genetic risk of CHD in the white population. |
| doi_str_mv | 10.1007/s00246-012-0578-z |
| format | Article |
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ISL1
is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the
ISL1
rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the
ISL1
rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case–control study design, 309 patients with CHD (197 men [age 21.3 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 21.3]) were genotyped for the
ISL1
rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the
ISL1
rs1017 polymorphism was not associated with the risk of CHD neither overall (
p
= 0.7) nor stratifying the population by sex and CHD classification. In conclusion,
ISL1
common variant rs1017 is not associated with increased genetic risk of CHD in the white population.</description><identifier>ISSN: 0172-0643</identifier><identifier>EISSN: 1432-1971</identifier><identifier>DOI: 10.1007/s00246-012-0578-z</identifier><identifier>PMID: 23229290</identifier><language>eng</language><publisher>New York: Springer-Verlag</publisher><subject>3' Untranslated Regions - genetics ; Adolescent ; Cardiac Surgery ; Cardiology ; Case-Control Studies ; Chi-Square Distribution ; Congenital heart disease ; Diseases ; Electrophoresis, Agar Gel ; European Continental Ancestry Group - genetics ; Female ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Heart ; Heart Defects, Congenital - ethnology ; Heart Defects, Congenital - genetics ; Heart diseases ; Humans ; LIM-Homeodomain Proteins - genetics ; Male ; Medical research ; Medicine ; Medicine & Public Health ; Medicine, Experimental ; Original Article ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Risk factors ; Single nucleotide polymorphisms ; Transcription Factors - genetics ; Vascular Surgery ; Young Adult</subject><ispartof>Pediatric cardiology, 2013-04, Vol.34 (4), p.938-941</ispartof><rights>Springer Science+Business Media New York 2012</rights><rights>COPYRIGHT 2013 Springer</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c411t-5e16f05c5539e33d74984b74b9dd4c0a98a27320ee1f6d6c2bda780fbe856ed23</citedby><cites>FETCH-LOGICAL-c411t-5e16f05c5539e33d74984b74b9dd4c0a98a27320ee1f6d6c2bda780fbe856ed23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00246-012-0578-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00246-012-0578-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23229290$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cresci, Monica</creatorcontrib><creatorcontrib>Vecoli, Cecilia</creatorcontrib><creatorcontrib>Foffa, Ilenia</creatorcontrib><creatorcontrib>Pulignani, Silvia</creatorcontrib><creatorcontrib>Ait-Ali, Lamia</creatorcontrib><creatorcontrib>Andreassi, Maria Grazia</creatorcontrib><title>Lack of Association of the 3′-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population</title><title>Pediatric cardiology</title><addtitle>Pediatr Cardiol</addtitle><addtitle>Pediatr Cardiol</addtitle><description>Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor
ISL1
is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the
ISL1
rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the
ISL1
rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case–control study design, 309 patients with CHD (197 men [age 21.3 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 21.3]) were genotyped for the
ISL1
rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the
ISL1
rs1017 polymorphism was not associated with the risk of CHD neither overall (
p
= 0.7) nor stratifying the population by sex and CHD classification. In conclusion,
ISL1
common variant rs1017 is not associated with increased genetic risk of CHD in the white population.</description><subject>3' Untranslated Regions - genetics</subject><subject>Adolescent</subject><subject>Cardiac Surgery</subject><subject>Cardiology</subject><subject>Case-Control Studies</subject><subject>Chi-Square Distribution</subject><subject>Congenital heart disease</subject><subject>Diseases</subject><subject>Electrophoresis, Agar Gel</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Variation</subject><subject>Genotype</subject><subject>Heart</subject><subject>Heart Defects, Congenital - ethnology</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Heart diseases</subject><subject>Humans</subject><subject>LIM-Homeodomain Proteins - genetics</subject><subject>Male</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Medicine, Experimental</subject><subject>Original Article</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Risk factors</subject><subject>Single nucleotide polymorphisms</subject><subject>Transcription Factors - genetics</subject><subject>Vascular Surgery</subject><subject>Young Adult</subject><issn>0172-0643</issn><issn>1432-1971</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc9u1DAQxi0EokvhAbggS1zKIcVjx_lzXC3QVlqpVWnF0XKcSdclsRc7ObQnbrwPj8ST4N20SEgI-TCy5_d9Hs1HyGtgx8BY-T4yxvMiY8AzJssqu39CFpALnkFdwlOyYFCmTpGLA_IixlvGWMUq-ZwccMF5zWu2ID_W2nylvqPLGL2xerTe7a7jBqn49f1ndn11SS98fzf4sN3YONCjECEZv6PW7amzz2ugJ-iQatfSSxv3divvbtDZUff0FHUY6QcbUUd8VH3Z2BGT8Xbq93--JM863Ud89VAPyfWnj1er02x9fnK2Wq4zkwOMmUQoOiaNlKJGIdoyr6u8KfOmbtvcMF1XmpeCM0ToirYwvGl1WbGuwUoW2HJxSI5m323w3yaMoxpsNNj32qGfogIBdQFCQp3QtzN6o3tU1nV-DNrscLUsQUouoBKJOv4HlU6LgzXeYWfT-18CmAUm-BgDdmob7KDDnQKmdrGqOVaVYlW7WNV90rx5mHpqBmz_KB5zTACfgZhaafNB3fopuLTJ_7j-BvnPq4Q</recordid><startdate>20130401</startdate><enddate>20130401</enddate><creator>Cresci, Monica</creator><creator>Vecoli, Cecilia</creator><creator>Foffa, Ilenia</creator><creator>Pulignani, Silvia</creator><creator>Ait-Ali, Lamia</creator><creator>Andreassi, Maria Grazia</creator><general>Springer-Verlag</general><general>Springer</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></search><sort><creationdate>20130401</creationdate><title>Lack of Association of the 3′-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population</title><author>Cresci, Monica ; Vecoli, Cecilia ; Foffa, Ilenia ; Pulignani, Silvia ; Ait-Ali, Lamia ; Andreassi, Maria Grazia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c411t-5e16f05c5539e33d74984b74b9dd4c0a98a27320ee1f6d6c2bda780fbe856ed23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>3' Untranslated Regions - genetics</topic><topic>Adolescent</topic><topic>Cardiac Surgery</topic><topic>Cardiology</topic><topic>Case-Control Studies</topic><topic>Chi-Square Distribution</topic><topic>Congenital heart disease</topic><topic>Diseases</topic><topic>Electrophoresis, Agar Gel</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Variation</topic><topic>Genotype</topic><topic>Heart</topic><topic>Heart Defects, Congenital - ethnology</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Heart diseases</topic><topic>Humans</topic><topic>LIM-Homeodomain Proteins - genetics</topic><topic>Male</topic><topic>Medical research</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Medicine, Experimental</topic><topic>Original Article</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Risk factors</topic><topic>Single nucleotide polymorphisms</topic><topic>Transcription Factors - genetics</topic><topic>Vascular Surgery</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cresci, Monica</creatorcontrib><creatorcontrib>Vecoli, Cecilia</creatorcontrib><creatorcontrib>Foffa, Ilenia</creatorcontrib><creatorcontrib>Pulignani, Silvia</creatorcontrib><creatorcontrib>Ait-Ali, Lamia</creatorcontrib><creatorcontrib>Andreassi, Maria Grazia</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><jtitle>Pediatric cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cresci, Monica</au><au>Vecoli, Cecilia</au><au>Foffa, Ilenia</au><au>Pulignani, Silvia</au><au>Ait-Ali, Lamia</au><au>Andreassi, Maria Grazia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lack of Association of the 3′-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population</atitle><jtitle>Pediatric cardiology</jtitle><stitle>Pediatr Cardiol</stitle><addtitle>Pediatr Cardiol</addtitle><date>2013-04-01</date><risdate>2013</risdate><volume>34</volume><issue>4</issue><spage>938</spage><epage>941</epage><pages>938-941</pages><issn>0172-0643</issn><eissn>1432-1971</eissn><abstract>Congenital heart defects (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life. The molecular causes of most CHDs remain largely unknown. The LIM homeodomain transcriptor factor
ISL1
is a marker for undifferentiated cardiac progenitor cells that give rise to both the right ventricle and the inflow and outflow tracts, which are affected by several cardiovascular malformations. Contradictory findings about the role of the
ISL1
rs1017 single-nucleotide polymorphism in increasing the risk of CHD have been reported. In this study, we aimed to investigate whether the
ISL1
rs1017 genetic polymorphism conferred susceptibility to CHD in the white population. In a case–control study design, 309 patients with CHD (197 men [age 21.3 ± 25.2]) and 500 healthy controls (272 men [age 15.7 ± 21.3]) were genotyped for the
ISL1
rs1017 polymorphism. No significant difference in the genotype and variant allele distributions was found between patients and controls. In addition, the
ISL1
rs1017 polymorphism was not associated with the risk of CHD neither overall (
p
= 0.7) nor stratifying the population by sex and CHD classification. In conclusion,
ISL1
common variant rs1017 is not associated with increased genetic risk of CHD in the white population.</abstract><cop>New York</cop><pub>Springer-Verlag</pub><pmid>23229290</pmid><doi>10.1007/s00246-012-0578-z</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0172-0643 |
| ispartof | Pediatric cardiology, 2013-04, Vol.34 (4), p.938-941 |
| issn | 0172-0643 1432-1971 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | 3' Untranslated Regions - genetics Adolescent Cardiac Surgery Cardiology Case-Control Studies Chi-Square Distribution Congenital heart disease Diseases Electrophoresis, Agar Gel European Continental Ancestry Group - genetics Female Genetic aspects Genetic Predisposition to Disease Genetic Variation Genotype Heart Heart Defects, Congenital - ethnology Heart Defects, Congenital - genetics Heart diseases Humans LIM-Homeodomain Proteins - genetics Male Medical research Medicine Medicine & Public Health Medicine, Experimental Original Article Polymerase Chain Reaction Polymorphism, Single Nucleotide Risk factors Single nucleotide polymorphisms Transcription Factors - genetics Vascular Surgery Young Adult |
| title | Lack of Association of the 3′-UTR Polymorphism (rs1017) in the ISL1 Gene and Risk of Congenital Heart Disease in the White Population |
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