PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.
Epigenomics
; 14(17): 987-993, 2022 09.
Article
in En
| MEDLINE
| ID: mdl-36154674
ABSTRACT
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.
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cleft Lip
/
Cleft Palate
Type of study:
Risk_factors_studies
Limits:
Humans
Country/Region as subject:
America do sul
/
Chile
Language:
En
Journal:
Epigenomics
Year:
2022
Document type:
Article
Affiliation country:
Chile