Vitamin B12 Transport Genes and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

The aims of this study were to assess the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P) and global DNA methylation in Chile. From 247 cases and 453 controls, we obtained variant genotypes for CBLIF ,...

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Published in:Reproductive sciences (Thousand Oaks, Calif.) Calif.), 2022-10, Vol.29 (10), p.2921-2926
Main Authors: Suazo, José, Salamanca, Carlos, Cáceres-Rojas, Gabriela, González-Hormazábal, Patricio, Pantoja, Roberto, Leiva, Noemi, Pardo, Rosa
Format: Article
Language:English
Subjects:
Embryology
Genetics: Short Communication
Medicine
Medicine & Public Health
Obstetrics/Perinatology/Midwifery
Reproductive Medicine
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Summary:The aims of this study were to assess the association between polymorphisms within genes involved in vitamin B12 transport and nonsyndromic cleft lip with or without cleft palate (NSCL/P) and global DNA methylation in Chile. From 247 cases and 453 controls, we obtained variant genotypes for CBLIF , CUBN , AMN , ABCC1 , CD320 , and TCN2 from a single nucleotide polymorphisms array. Global DNA methylation in 95 controls was obtained through LINE-1 methylation. After multiple comparison corrections, only rs780807 in CUBN remains associated with NSCL/P at dominant model (OR 0.564, p -value = 0.0006, q -value = 0.0450). Carriers of protective allele showed lower levels of DNA methylation than non-carriers ( p  = 0.0259). Further studies are necessary in order to explain relations with the phenotype and DNA methylation due to the absence of functional evidence for rs780807 in CUBN .
ISSN:1933-7191
1933-7205
DOI:10.1007/s43032-022-00957-4