Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile

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dc.contributor.authorInostroza, Veronica
dc.contributor.authorSalamanca, Carlos
dc.contributor.authorRecabarren, Andrea S.
dc.contributor.authorPantoja, Roberto
dc.contributor.authorLeiva, Noemi
dc.contributor.authorPardo, Rosa
dc.contributor.authorSuazo, Jose
dc.date.accessioned2025-01-20T22:14:00Z
dc.date.available2025-01-20T22:14:00Z
dc.date.issued2021
dc.description.abstractThe aim of this study was to evaluate, in a case-control design, the association between maternal genotypes for variants in 23 genes involved in folate/one-carbon metabolism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population. After applying several filters to an Illumina array, we extracted 175 single nucleotide polymorphisms (SNPs) from 150 mothers of NSCL/P cases and 150 control women. Association was evaluated using computed odds ratio (OR) with a 95% confidence interval (95% CI) in additive, recessive, and dominant models. After multiple comparison correction, only SNP rs4451422 (A>C), located 237 bp downstream of the gene encoding the human folylpolyglutamate synthetase (FPGS), maintained a significant association with NSCL/P in the offspring (OR 3.03; 95% CI 1.69-5.26). The variant rs4451422 is associated with a decrease in FPGS expression according to database annotation. Our results lead to a new hypothesis that a lower activity of FPGS enzyme reduces intracellular folate levels and increases the risk of an offspring having NSCL/P.
dc.description.funderNational Agency of Research and Development (ANID)
dc.fuente.origenWOS
dc.identifier.doi10.1111/eos.12813
dc.identifier.eissn1600-0722
dc.identifier.issn0909-8836
dc.identifier.urihttps://doi.org/10.1111/eos.12813
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/94466
dc.identifier.wosidWOS:000675126800001
dc.issue.numero5
dc.language.isoen
dc.revistaEuropean journal of oral sciences
dc.rightsacceso restringido
dc.subjectcleft lip
dc.subjectpalate
dc.subjectfolate
dc.subjectfolic acid
dc.subjectfolylpolyglutamate synthetase
dc.subjectone-carbon metabolism
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleMaternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile
dc.typeartículo
dc.volumen129
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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