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Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls
Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. Methods In this study, the association between th...
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Published in: | Egyptian Journal of Medical Human Genetics 2023-12, Vol.24 (1), p.29-7 |
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description | Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. Methods In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. Results The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31-2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy-Weinberg equilibrium (HWE). Conclusions Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients. |
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Methods In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. Results The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31-2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy-Weinberg equilibrium (HWE). Conclusions Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.</description><identifier>ISSN: 1110-8630</identifier><identifier>EISSN: 2090-2441</identifier><identifier>DOI: 10.1186/s43042-023-00408-y</identifier><language>eng</language><publisher>Cairo: Springer</publisher><subject>Alleles ; Cardiovascular disease ; Children ; Congenital diseases ; Congenital heart defects ; Congenital heart disease ; Defects ; Enzymes ; Equilibrium ; Ethnicity ; Gene polymorphism ; Genetic aspects ; Genetic disorders ; Genotype & phenotype ; Health aspects ; Heart ; Heart diseases ; Homocysteine ; Meta-analysis ; Methylenetetrahydrofolate reductase ; MTHFR C677T ; Pediatrics ; Polymorphism ; Population studies ; Restriction fragment length polymorphism ; Risk factors ; Statistical analysis ; Susceptibility ; Thermal cycling</subject><ispartof>Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.29-7</ispartof><rights>COPYRIGHT 2023 Springer</rights><rights>The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2793892389/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2793892389?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,25753,27924,27925,37012,44590,75126</link.rule.ids></links><search><creatorcontrib>Esmaiel, Nora N</creatorcontrib><creatorcontrib>Ashaat, Engy A</creatorcontrib><creatorcontrib>Al-Ettribi, Ghada M</creatorcontrib><creatorcontrib>Fayez, Alaaeldin</creatorcontrib><creatorcontrib>Alsaiedi, Sonia A</creatorcontrib><creatorcontrib>El Ruby, Mona O</creatorcontrib><title>Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls</title><title>Egyptian Journal of Medical Human Genetics</title><description>Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. Methods In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. Results The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31-2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy-Weinberg equilibrium (HWE). Conclusions Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.</description><subject>Alleles</subject><subject>Cardiovascular disease</subject><subject>Children</subject><subject>Congenital diseases</subject><subject>Congenital heart defects</subject><subject>Congenital heart disease</subject><subject>Defects</subject><subject>Enzymes</subject><subject>Equilibrium</subject><subject>Ethnicity</subject><subject>Gene polymorphism</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genotype & phenotype</subject><subject>Health aspects</subject><subject>Heart</subject><subject>Heart diseases</subject><subject>Homocysteine</subject><subject>Meta-analysis</subject><subject>Methylenetetrahydrofolate reductase</subject><subject>MTHFR C677T</subject><subject>Pediatrics</subject><subject>Polymorphism</subject><subject>Population studies</subject><subject>Restriction fragment length polymorphism</subject><subject>Risk factors</subject><subject>Statistical analysis</subject><subject>Susceptibility</subject><subject>Thermal cycling</subject><issn>1110-8630</issn><issn>2090-2441</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkc9qGzEQxpfSQt20L9CToGel-rcrbW_GJE0goVDc8zIrzTpy15IryQ37Xn3ACifQHoJGCIbf941mpmk-cnbJuek-ZyWZEpQJSRlTzNDlVbMSrGdUKMVfNyvOOaOmk-xt8y7nPWNdK7VaNX_WOUfrofgYyIjlETGQ--3N9Xey6bTekt-QPIRCIDiSfP5JppiIjWGHwReYyQNCKsThhLZk4gO52i3HUiXEPvjZJQxfCBALGWlVlRRnksvJLRW188n5sCMHLEAhwLxkn8lYUUfqb7jSZ10-1-ZKkmeD_L55M8Gc8cPze9H8uL7abm7o3bevt5v1HbVK6UKVFdC2oxO9MMo5PiL20EpuGWhwHEahxNjpESRDY3k3MYsT6H5qUXWKW3nR3D75ugj74Zj8AdIyRPDDORHTbqjNezvjoGVdgAE0U6cVCFND90Z3DIUwXGL1-vTkdUzx1wlzGfbxlGrTeRC6l6YX9f6jdlBNfZhiSWAPPtthresmWas4r9TlC1Q9Dg--DgknX_P_Cf4CWTSoVg</recordid><startdate>20231201</startdate><enddate>20231201</enddate><creator>Esmaiel, Nora N</creator><creator>Ashaat, Engy A</creator><creator>Al-Ettribi, Ghada M</creator><creator>Fayez, Alaaeldin</creator><creator>Alsaiedi, Sonia A</creator><creator>El Ruby, Mona O</creator><general>Springer</general><general>Springer Nature B.V</general><general>SpringerOpen</general><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>CWDGH</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>DOA</scope></search><sort><creationdate>20231201</creationdate><title>Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls</title><author>Esmaiel, Nora N ; Ashaat, Engy A ; Al-Ettribi, Ghada M ; Fayez, Alaaeldin ; Alsaiedi, Sonia A ; El Ruby, Mona O</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c447t-4c2a55bd29284dd1bee9a531c0a7ad1ab242b67ba30e8c16f0cefa79f5e4641c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Alleles</topic><topic>Cardiovascular disease</topic><topic>Children</topic><topic>Congenital diseases</topic><topic>Congenital heart defects</topic><topic>Congenital heart disease</topic><topic>Defects</topic><topic>Enzymes</topic><topic>Equilibrium</topic><topic>Ethnicity</topic><topic>Gene polymorphism</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genotype & phenotype</topic><topic>Health aspects</topic><topic>Heart</topic><topic>Heart diseases</topic><topic>Homocysteine</topic><topic>Meta-analysis</topic><topic>Methylenetetrahydrofolate reductase</topic><topic>MTHFR C677T</topic><topic>Pediatrics</topic><topic>Polymorphism</topic><topic>Population studies</topic><topic>Restriction fragment length polymorphism</topic><topic>Risk factors</topic><topic>Statistical analysis</topic><topic>Susceptibility</topic><topic>Thermal cycling</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Esmaiel, Nora N</creatorcontrib><creatorcontrib>Ashaat, Engy A</creatorcontrib><creatorcontrib>Al-Ettribi, Ghada M</creatorcontrib><creatorcontrib>Fayez, Alaaeldin</creatorcontrib><creatorcontrib>Alsaiedi, Sonia A</creatorcontrib><creatorcontrib>El Ruby, Mona O</creatorcontrib><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>Middle East & Africa Database</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Egyptian Journal of Medical Human Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Esmaiel, Nora N</au><au>Ashaat, Engy A</au><au>Al-Ettribi, Ghada M</au><au>Fayez, Alaaeldin</au><au>Alsaiedi, Sonia A</au><au>El Ruby, Mona O</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls</atitle><jtitle>Egyptian Journal of Medical Human Genetics</jtitle><date>2023-12-01</date><risdate>2023</risdate><volume>24</volume><issue>1</issue><spage>29</spage><epage>7</epage><pages>29-7</pages><issn>1110-8630</issn><eissn>2090-2441</eissn><abstract>Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. Methods In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. Results The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31-2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy-Weinberg equilibrium (HWE). Conclusions Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.</abstract><cop>Cairo</cop><pub>Springer</pub><doi>10.1186/s43042-023-00408-y</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Cardiovascular disease Children Congenital diseases Congenital heart defects Congenital heart disease Defects Enzymes Equilibrium Ethnicity Gene polymorphism Genetic aspects Genetic disorders Genotype & phenotype Health aspects Heart Heart diseases Homocysteine Meta-analysis Methylenetetrahydrofolate reductase MTHFR C677T Pediatrics Polymorphism Population studies Restriction fragment length polymorphism Risk factors Statistical analysis Susceptibility Thermal cycling |
title | Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case-control study including meta-analysis based on 147 cases and 143 controls |
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