Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants

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dc.catalogadoraba
dc.contributor.authorCáceres Rojas, Gabriela
dc.contributor.authorSalamanca, Carlos
dc.contributor.authorKrause, Bernardo J.
dc.contributor.authorRecabarren, Andrea S.
dc.contributor.authorPantoja, Roberto
dc.contributor.authorLeiva, Noemi
dc.contributor.authorPardo, Rosa
dc.contributor.authorSantos Martín, José Luis
dc.contributor.authorSuazo, José
dc.date.accessioned2024-01-17T19:36:06Z
dc.date.available2024-01-17T19:36:06Z
dc.date.issued2020
dc.description.abstractAim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, MTHFR genotypes for variants c.C677T (rs1801133) and c.A1298C (rs1801131) were obtained. Results: Middle levels (second tertile) of LINE-1 methylation increase the risk of NSOFCs. In addition, LINE-1 methylation depends on c.A1298C genotypes in controls but not in cases. Conclusion: A nonlinear association between global DNA methylation and NSOFCs was detected in this Chilean population, which appears to be influenced by MTHFR functional variants.
dc.fechaingreso.objetodigital2024-01-19
dc.format.extent9 páginas
dc.fuente.origenORCID-ene24
dc.identifier.doi10.2217/epi-2020-0021
dc.identifier.eissn1750-192X
dc.identifier.issn1750-1911
dc.identifier.pubmedidMEDLINE:33147056
dc.identifier.urihttps://doi.org/10.2217/epi-2020-0021
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80578
dc.identifier.wosidWOS:000585300300001
dc.information.autorucEscuela de Medicina; Santos Martín, José Luis; 0000-0003-2895-0369; 1005923
dc.issue.numero20
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final1791
dc.pagina.inicio1783
dc.revistaEPIGENOMICS
dc.rightsacceso restringido
dc.subjectDNA methylation
dc.subjectLINE-1
dc.subjectMTHFR
dc.subjectNonsyndromic orofacial clefts
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants
dc.typeartículo
dc.volumen12
sipa.codpersvinculados1005923
sipa.codpersvinculadosS/I
sipa.indexWoS
sipa.indexPubmed
sipa.trazabilidadORCID;2024-01-08
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