PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile

Primer Autor
Suazo, Jose
Co-autores
Salamanca, Carlos
Gonzalez-Hormazabal, Patricio
Caceres-Rojas, Gabriela
Pantoja, Roberto
Leiva, Noemi
Pardo, Rosa
Título
PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile
Editorial
FUTURE MEDICINE LTD
Revista
EPIGENOMICS
Lenguaje
en
Resumen
Aim: To assess the association between PEMT variants and nonsyndromic cleft lip with or without cleft palate in Chile and the effects of these variants on global DNA methylation. Subjects & methods: The authors obtained genotypes for nine variants from 247 cases and 453 controls for genotype-phenotype associations. The effect of significant polymorphisms on global DNA methylation (percentage of long interspersed element-1 methylation) was evaluated in a subsample of 95 controls. Results: After multiple comparison corrections, variants rs7649 and rs4646409 were associated with nonsyndromic cleft lip with or without cleft palate. Carriers of risk alleles presented lower DNA methylation levels than noncarriers. Conclusion: According to functional analysis for risk variants from previous reports, the authors infer that a decrease of methyl group availability is occurring in affected subjects. Plain language summary This study evaluated if variants in the gene named PEMT confers an increased risk for nonsyndromic cleft lip with or without cleft palate in Chile and its possible effects on methylation of DNA, a variable linked to gene expression modulation. The study found that the variants recognized as rs7649 and rs4646409 increase the risk of nonsyndromic cleft lip with or without cleft palate in the Chilean population and decrease DNA methylation. The authors conclude that this gene may be involved in this birth defect. New studies are needed to confirm the relation between this condition and DNA methylation mediated by these genetic variants.
Tipo de Recurso
artículo original
Description
This study was supported by the FONDECYT grant 1170805 (ANID Chile).
Este estudio fue apoyado por el subsidio FONDECYT 1170805 (ANID Chile).
doi
10.2217/epi-2022-0180
Formato Recurso
PDF
Palabras Claves
association
choline
genetic variants
orofacial clefts
PEMT
PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE
CHOLINE
LIVER
RISK
GENE
POLYMORPHISM
METHYLATION
Ubicación del archivo
http://dx.doi.org/10.2217/epi-2022-0180
Categoría OCDE
Genética y herencia
Materias
asociación
colina
variantes genéticas
hendiduras orofaciales
PEMT
FOSFATIDILETANOLAMINA N-METILTRANSFERASA
COLINA
HÍGADO
RIESGO
GEN
POLIMORFISMO
METILACIÓN
Disciplinas de la OCDE
Genética y Herencia
Genética Humana
Otros Temas de Medicina Clínica
Título de la cita (Recomendado-único)
PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile
Página de inicio (Recomendado-único)
987
Página final (Recomendado-único)
994
Identificador del recurso (Mandatado-único)
artículo original
Versión del recurso (Recomendado-único)
version publicada
Condición de la licencia (Recomendado-repetible)
0
Derechos de acceso
metadata
Access Rights
metadata
Referencia del Financiador (Mandatado si es aplicable-repetible)
ANID-FONDECYT 1170805
ANID FONDECYT 1170805
Id de Web of Science
WOS:000860826500001
Colecciones
Colección Publicaciones Científicas
Colección ANID
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