PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile
| Primer Autor |
Suazo, Jose
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| Co-autores |
Salamanca, Carlos
Gonzalez-Hormazabal, Patricio
Caceres-Rojas, Gabriela
Pantoja, Roberto
Leiva, Noemi
Pardo, Rosa
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| Título |
PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile
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| Editorial |
FUTURE MEDICINE LTD
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| Revista |
EPIGENOMICS
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| Lenguaje |
en
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| 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.
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| Tipo de Recurso |
artículo original
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| Description |
This study was supported by the FONDECYT grant 1170805 (ANID Chile).
Este estudio fue apoyado por el subsidio FONDECYT 1170805 (ANID Chile).
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| doi |
10.2217/epi-2022-0180
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| Formato Recurso |
PDF
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| Palabras Claves |
association
choline
genetic variants
orofacial clefts
PEMT
PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE
CHOLINE
LIVER
RISK
GENE
POLYMORPHISM
METHYLATION
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| Ubicación del archivo | |
| Categoría OCDE |
Genética y herencia
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| Materias |
asociación
colina
variantes genéticas
hendiduras orofaciales
PEMT
FOSFATIDILETANOLAMINA N-METILTRANSFERASA
COLINA
HÍGADO
RIESGO
GEN
POLIMORFISMO
METILACIÓN
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| Título de la cita (Recomendado-único) |
PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile
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| Página de inicio (Recomendado-único) |
987
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| Página final (Recomendado-único) |
994
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| Identificador del recurso (Mandatado-único) |
artículo original
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| Versión del recurso (Recomendado-único) |
version publicada
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| Condición de la licencia (Recomendado-repetible) |
0
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| Derechos de acceso |
metadata
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| Access Rights |
metadata
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| Referencia del Financiador (Mandatado si es aplicable-repetible) |
ANID-FONDECYT 1170805
ANID FONDECYT 1170805
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| Id de Web of Science |
WOS:000860826500001
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