Background: DNA methylation is the best epigenetic mechanism for explaining the interactions between nutrients and genes involved in intrauterine growth and development programming. A possible contributor of methylation abnormalities to congenital heart disease is the folate methylation regulatory pathway; however, the mechanisms and methylation patterns of VSD-associated genes are not fully understood. Objective: To determine if maternal dietary intake of folic acid (FA) is related to the methylation status (MS) of VSD-associated genes (AXIN1, MTHFR, TBX1, and TBX20). Methods: Prospective case–control study; 48 mothers and their children were evaluated. The mothers’ dietary variables were collected through a food frequency questionnaire focusing on FA and the consumption of supplements with FA. The MS of promoters of genes was determined in the children. Results: The intake of FA supplements was significantly higher in the control mothers. In terms of maternal folic acid consumption, significant differences were found in the first trimester of pregnancy. Significant differences were observed in the MS of MTHFR and AXIN1 genes in VSD and control children. A correlation between maternal FA supplementation and MS of AXIN1 and TBX20 genes was found in control and VSD children, respectively. Conclusions: A lower MS of AXIN1 genes and a higher MS of TBX20 genes is associated with FA maternal supplementation.

(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. The aim of the present study was to determine if there is a relationship between the methy lation status (MS) of genes and the allelic variants associated with CHDs. (2) Methods: Seven SNVs of the genes AXIN1, TBX1, TBX20, and MTHFR were selected from the literature. DNA extraction, genotyping, and a methylation analysis were performed on healthy subjects and subjects with CHDs. (3) Results: Twenty-two subjects with CHDs were selected as the case group (15 with ventricular septal defects (VSDs) and 7 with atrial septal defects (ASDs)), and 44 healthy subjects comprised the control group. The MTHFR and AXIN1 genes were hypermethylated in the control group when compared to the case group. When analyzed separately, those with atrial septum defects exhibited greater methylation, except for the gene MTHFR where there were no differences. Only the alternate alleles of MTHFR showed a significantly different methylation status in those without cardiopathy. (4) Conclusions: The MTHFR and AXIN genes were hypermethylated in the control group; however, only the alternate alleles of MTHFR (rs1801133 and rs1801131) showed a significantly different methylation status.

Introducción. La osteoporosis se caracteriza por una baja densidad mineral ósea; la composición genética es uno de los factores que más influyen en ella, pero hay pocos estudios de genes asociados con esta condición en la población mexicana.Objetivo. Investigar la posible asociación de ocho polimorfismos de un solo nucleótido (Single Nucleotide Polymorphism, SNP) de los genes JAG1, MEF2C y BDNF con la densidad mineral ósea en mujeres del norte de México.Materiales y métodos. Participaron 124 mujeres de 40 a 80 años, sin parentesco entre ellas. Su densidad mineral ósea se determinó mediante absorciometría dual de rayos X y la genotipificación se hizo utilizando discriminación alélica mediante PCR en tiempo real; se estudiaron cuatro de los SNP del gen JAG1 (rs6514116, rs2273061, rs2235811 y rs6040061), tres del MEF2C (rs1366594, rs12521522 y rs11951031) y uno del BDNF (rs6265). El análisis estadístico de los datos obtenidos se hizo por regresión lineal.Resultados. El SNP rs2235811 presentó asociación significativa con la densidad mineral ósea de todo el cuerpo bajo el modelo de herencia dominante (p=0,024) y, aunque los otros SNP no tuvieron relación significativa con esta densidad, en ninguno de los modelos de herencia estudiados, se observó una tendencia hacia esta asociación.Conclusión. Los resultados sugieren que el SNP rs2235811 del gen JAG1 podría contribuir a la variación en la densidad mineral ósea de las mujeres del norte de México.

Background: Metabolic syndrome (MS), a combination of diabetes, high blood pressure and obesity, is a well-known risk factor for developing non-alcoholic fatty liver disease, condition that can lead to serious liver damage such as liver fibrosis (LF), which is characterized by excessive deposition of connective tissue, progressing to cirrhosis and hepatocellular carcinoma. Nevertheless, subjects without MS may also develop LF. Non-invasive LF predictors based upon anthropometric and biochemical data have been reported. Aim: To compare anthropometric, genetic, and biochemical parameters in subjects with or without MS, and at risk for developing liver fibrosis. Methods: A randomized sample of 200 individuals was taken from the 2015 Nuevo León State Health Survey. Inclusion criteria were age ≥18 and a previously stored blood sample. According to the parameters obtained, subjects were classified as either with or without MS and their NAFLD fibrosis score was calculated considering variables such as age, BMI, glycemia, albumin, platelets, and AST/ALT ratio, to establish a high or low risk of LF. Comparisons of weight, age, BMI, blood glucose, total cholesterol, triglycerides, platelets, albumin, AST/ALT ratio, and HDL were made between groups. DNA was extracted from stored blood samples and genotyped, using q-PCR, according to variants in four genes related to: fatty acid (FA) metabolism (PNPLA3, rs738409), adipocyte differentiation (PLIN2, rs35568725), glucose metabolism (GCKR, rs1260326 and rs780094), and BMI (UCP2, rs659366). Statistical analysis was performed with SPSS v.22. A p value <0.05 was taken as level of significance. Results: A total of 134 subjects were included and divided into four groups (n): With MS+ high risk (35), With MS+ low risk (34), Without MS+ high risk (32), Without MS+ low risk (33). Table 1 shows the main significative findings. Higher age, low platelet count, and increased AST/ALT ratio, were significantly different in high risk subjects, independently of the presence of MS. No association between the polymorphisms and risk for fibrosis was found. In subjects at high risk for LF, statistical significance was found for high cholesterol blood levels (OR= 20.0 (95%CI 2.87;139.38) in carriers of the T allele of GCKR rs780094 polymorphism. Conclusion: Aging, thrombocytopenia, and increased transaminases, the last two indicators of liver disfunction, were found as important risk factors for LF in subjects without metabolic syndrome. None of the genetic variants analyzed resulted associated to risk of LF, although sample size could be a factor. GCKR rs780094 variant was found related with risk for hypercholesterolemia, even though dyslipidemia was not found associated with risk of LF in the present study.