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

Abstract

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.

• Authors: José Suazo, Carlos Salamanca, Gabriela Cáceres-Rojas, Patricio González-Hormazábal, Roberto Pantoja, Noemi Leiva, Rosa Pardo
• Journal: Reproductive sciences (Thousand Oaks, Calif.) (Reprod Sci) Vol. 29 Issue 10 Pg. 2921-2926 (10 2022) ISSN: 1933-7205 [Electronic] United States
• PMID: 35471549 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2022. Society for Reproductive Investigation.

Chemical References

• Vitamin B 12

Topics

• Case-Control Studies
• Chile
• Cleft Lip (genetics)
• Cleft Palate (genetics)
• Genetic Predisposition to Disease
• Genotype
• Humans
• Polymorphism, Single Nucleotide
• Vitamin B 12