Publications by authors named "Pamela A Recabarren"
To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, genotypes for variants c.
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- The study investigates the link between specific genetic variations (SNPs) in genes related to S-adenosyl-methionine (SAM) synthesis and the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population.
- Through analysis of 234 cases and 309 controls, researchers identified three specific SNPs in the MTR gene that appear to offer protection against NSCL/P by correlating with lower levels of MTR expression, which influences SAM availability.
- The findings highlight the importance of genetic variants in the SAM synthesis pathway as potential markers for NSCL/P, suggesting further research is needed for functional validation and implications in genetic counseling.
Objective: To assess the association between polymorphic variants from SHMT1 and MTHFS genes, involved in the cytoplasmic futile folate cycle, and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Chilean population.
Subjects And Methods: In a sample of 139 Chilean NSCL/P cases and 278 controls, we obtained the genotypes for nine variants of SHMT1 and MTHFS and the association between them and the phenotype was evaluated using odds ratios (OR) in additive (allele), dominant, and recessive models.
Results: After correction for multiple comparisons, only the variant rs1979277 (G > A; p.