{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:36:31Z","timestamp":1756384591837},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,1,28]],"date-time":"2014-01-28T00:00:00Z","timestamp":1390867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,4]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>While several single nucleotide polymorphisms are known to influence the metabolism of folate, the methylene tetrahydrofolate reductase (MTHFR<\/jats:styled-content><\/jats:italic>) gene has been the most extensively studied. The aim of this study was to investigate the relationship between the MTHFR<\/jats:styled-content><\/jats:italic> polymorphisms 1298A<\/jats:styled-content>>C<\/jats:styled-content> and 677C<\/jats:styled-content>>T<\/jats:styled-content> and congenital heart disease. In addition, the relationship between these gene polymorphisms and homocysteine level was determined in T<\/jats:styled-content>urkish subjects.<\/jats:p><\/jats:sec>Methods<\/jats:title>Patients with non\u2010syndromic congenital heart defects who were admitted to the Pediatric Cardiology Unit at H<\/jats:styled-content>acettepe U<\/jats:styled-content>niversity I<\/jats:styled-content>hsan D<\/jats:styled-content>ogramaci Children's Hospital, A<\/jats:styled-content>nkara, T<\/jats:styled-content>urkey between J<\/jats:styled-content>une 2002 and J<\/jats:styled-content>une 2003 were recruited for the study. A total of 163 children with congenital heart defects (mean age, 7.63 \u00b1 6.03 years; M\/F, 93\/70) and 93 healthy controls were analyzed.<\/jats:p><\/jats:sec>Results<\/jats:title>When evaluated either separately or together, there were no differences in the frequency of MTHFR<\/jats:styled-content><\/jats:italic> 677C<\/jats:styled-content>>T<\/jats:styled-content> or 1298A<\/jats:styled-content>>C<\/jats:styled-content> polymorphisms between the children with congenital heart defects and the control group. The results were the same when considering only conotruncal defects. Those with the 677C<\/jats:styled-content>>T<\/jats:styled-content> polymorphism had significantly lower homocysteine level (P<\/jats:italic> = 0.004), but the 1298A<\/jats:styled-content>>C<\/jats:styled-content> polymorphism was not related to homocysteine level.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>No relationship was found between congenital heart defects and 1298A<\/jats:styled-content>>C<\/jats:styled-content> or 677C<\/jats:styled-content>>T<\/jats:styled-content> polymorphisms. The 677C<\/jats:styled-content>>T<\/jats:styled-content> polymorphism was related to low homocysteine level. Because there is often much heterogeneity between populations, this study should be conducted in different populations and with larger numbers of participants.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12222","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T21:53:21Z","timestamp":1381528401000},"page":"167-172","source":"Crossref","is-referenced-by-count":12,"title":["Methylene tetrahydrofolate reductase<\/i> polymorphisms and homocysteine level in heart defects"],"prefix":"10.1111","volume":"56","author":[{"given":"Umit M","family":"Sahiner","sequence":"first","affiliation":[{"name":"Pediatric Cardiology Department of Pediatrics Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Pediatrics Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dursun","family":"Alehan","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department of Pediatrics Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ergul","family":"Tuncbilek","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Pediatrics Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Department of Pediatrics Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)36830-4"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001648-199801000-00019"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a010291"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590428"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38036.646030.EE"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(98)00061-X"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20132"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a010070"},{"key":"e_1_2_6_10_1","first-page":"35","article-title":"Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease","volume":"58","author":"Kluijtmans LA","year":"1996","journal-title":"Am. 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