Publications by authors named "Andrea S Recabarren"
The 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.
View Article and Find Full Text PDFTo 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.
View Article and Find Full Text PDFThe aim of this study was to assess the association between IRF6 single nucleotide polymorphisms and nonsyndromic cleft lip, with or without cleft palate (NSCL/P), in a Chilean population, based on a case-control sample and confirmed in a case-parent trio population. In a sample of 150 Chilean case-parent trios and 164 controls (cohort 1), we evaluated the association between three common IRF6 variants (rs764093, rs2236909, rs2235375) and NSCL/P using odds ratio (OR) for case-control and case-parent trios and in a combined OR of both designs. To confirm associations from the cohort 1, we increased the sample size to 215 triads and 320 controls (cohort 1 + cohort 2).
View Article and Find Full Text PDFArticle Synopsis
- 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.
Article Synopsis
- The study investigates the link between genetic variants in SHMT1 and MTHFS genes and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Chileans.
- Genetic analysis was conducted on 139 NSCL/P cases and 278 controls, focusing on nine specific variants, with significant methods used to determine associations.
- The findings suggest that the rs1979277 variant in SHMT1 offers a protective effect against NSCL/P, possibly due to reduced enzymatic activity leading to higher folate concentrations, which may mitigate risk.