{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T19:28:19Z","timestamp":1793042899152,"version":"4.5.0"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T00:00:00Z","timestamp":1383264000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>\n              <jats:italic>NKX2-5<\/jats:italic>, <jats:italic>GATA4<\/jats:italic> and <jats:italic>HAND1<\/jats:italic> are essential for heart development, however, little is known regarding their epigenetic regulation in the pathogenesis of tetralogy of fallot (TOF).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Methylation levels were measured in three regions of <jats:italic>NKX2-5<\/jats:italic> (M1: -1596\u00a0bp\u2009~\u2009-1374\u00a0bp, M2: -159\u00a0bp\u2009~\u2009217\u00a0bp and M3: 1058\u00a0bp\u2009~\u20091524\u00a0bp), one region of <jats:italic>GATA4<\/jats:italic> (M: -392\u00a0bp\u2009~\u2009107\u00a0bp) and three regions of <jats:italic>HAND1<\/jats:italic> (M1: -887\u00a0bp\u2009~\u2009-414\u00a0bp, M2: -436\u00a0bp\u2009~\u20092\u00a0bp and M3: 37\u00a0bp\u2009~\u2009398\u00a0bp) using the Sequenom MassARRAY platform. QRT-PCR was used to analyze <jats:italic>NKX2-5<\/jats:italic> and <jats:italic>HAND1<\/jats:italic> mRNA levels in the right ventricular myocardium of TOF patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>TOF patients had a significantly higher <jats:italic>NKX2-5<\/jats:italic>_M3 median methylation level than controls (41.65% vs. 22.18%; <jats:italic>p<\/jats:italic>\u2009=\u20090.0074; interquartile range [IQR]: 30.46%\u201353.35%, N\u2009=\u200930 and 20.07%\u201324.31%, N\u2009=\u20095; respectively). The <jats:italic>HAND1<\/jats:italic>_M1 median methylation level was also significantly higher in TOF patients than controls (30.05% vs. 17.54%; <jats:italic>p<\/jats:italic>\u2009=\u20090.0054; IQR: 20.77%\u201340.89%, N\u2009=\u200930 and IQR: 14.69%\u201320.64%; N\u2009=\u20096; respectively). The methylation statuses of <jats:italic>NKX2-5<\/jats:italic>_M1, <jats:italic>NKX2-5<\/jats:italic>_M2, <jats:italic>GATA4<\/jats:italic>_M, <jats:italic>HAND1<\/jats:italic>_M2 or <jats:italic>HAND1<\/jats:italic>_M3 were not significantly different in TOF patients compared to controls. The methylation values for <jats:italic>NKX2-5<\/jats:italic>_M3 were negatively correlated with mRNA levels (r\u2009=\u2009- 0.463, <jats:italic>p<\/jats:italic>\u2009=\u20090.010, N\u2009=\u200930) and there was a significant association between <jats:italic>HAND1<\/jats:italic>_M1 methylation status and mRNA levels (r\u2009=\u2009- 0.524, <jats:italic>p<\/jats:italic>\u2009=\u20090.003, N\u2009=\u200930) in TOF patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Aberrant methylation statuses of the <jats:italic>NKX2-5<\/jats:italic> gene body and <jats:italic>HAND1<\/jats:italic> promoter regions are associated with the regulation of gene transcription in TOF patients and may play an important role in the pathogenesis of TOF.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1755-8794-6-46","type":"journal-article","created":{"date-parts":[[2013,11,1]],"date-time":"2013-11-01T10:05:23Z","timestamp":1383300323000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["DNA methylation status of NKX2-5, GATA4 and HAND1in patients with tetralogy of fallot"],"prefix":"10.1186","volume":"6","author":[{"given":"Wei","family":"Sheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Qian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianwei","family":"Diao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quan","family":"An","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Long","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoying","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,11,1]]},"reference":[{"issue":"9392","key":"419_CR1","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1016\/S0140-6736(03)14574-6","volume":"362","author":"J Therrien","year":"2003","unstructured":"Therrien J, Webb G: Clinical update on adults with congenital heart disease. 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