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Isela Esther Juárez-Rojop,1 Carlos Mario Fortuny-Falconi,2 Thelma Beatriz González-Castro,3 Carlos Alfonso Tovilla-Zárate,2 Mario Villar-Soto,4 Ester Rodríguez Sanchez,4 Yazmín Hernández-Díaz,3 María Lilia López-Narvaez,5 Jorge L Ble-Castillo,1 Nonanzit Pérez-Hernández,6 José Manuel Rodríguez-Pérez6 1Multidisciplinary Academic Division of Health Sciences; Juarez Autonomous University of Tabasco, Villahermosa, Tabasco, Mexico; 2Multidisciplinary Academic Division of Comalcalco; Juarez Autonomous University of Tabasco, Comalcalco, Tabasco, Mexico; 3Multidisciplinary Academic Division of Jalpa de Méndez; Juarez Autonomous University of Tabasco, Jalpa de Méndez, Tabasco, Mexico; 4Psychiatric Care Services, Hospital of high specialty “Gustavo A. Rovirosa Pérez”, Ministry of Health, Villahermosa, Tabasco, Mexico; 5Pediatric Care Services, General Hospital of Yajalon “Dr. Manuel Velasco Suarez”, Yajalon, Chiapas, Mexico; 6Department of Molecular Biology, National Institute of Cardiology Ignacio Chávez, Mexico City, Mexico Background: Diabetes mellitus is a chronic disease that requires attention and commitment on the part of patients; improving the quality of life of these patients reduces health costs, morbidity, and mortality. We focused on investigating the factors related with the quality of life and depression symptomatology in patients with type 2 diabetes.Participants and methods: A total of 173 Mexican patients with type 2 diabetes were recruited. An interview face-to-face, a sociodemographic characteristics questionnaire, the Short Form 36 (SF-36), and the Clinical Epidemiological Studies of Depression were applied. The biochemical parameters measured were blood glucose, cholesterol, triacylglycerol levels, and glycated hemoglobin.Results: In all SF-36 subscales, female patients had lower scores in comparison with male patients; individuals ≥65 years of age showed less physical function. We observed that married patients presented a better quality of life than people who were widowed or divorced (P

Thelma Beatriz González-Castro,1 Yazmín Hernández-Díaz,1 Isela Esther Juárez-Rojop,2 María Lilia López-Narváez,3 Carlos Alfonso Tovilla-Zárate,4 Julian Ramírez-Bello,5 Nonanzit Pérez-Hernández,6 Alma Delia Genis-Mendoza,7 Ana Fresan,8 Crystell Guadalupe Guzmán-Priego2 1Multidisciplinary Academic Division of Jalpa de Méndez, Juarez Autonomous University of Tabasco, Jalpa de Méndez, Tabasco, Mexico; 2Multidisciplinary Academic Division of Health Sciences, Juarez Autonomous University of Tabasco, Villahermosa, Tabasco, Mexico; 3General Hospital of Yajalon, Ministry of Health, Yajalon, Chiapas, Mexico; 4Multidisciplinary Academic Division of Comalcalco, Juarez Autonomous University of Tabasco, Comalcalco, Tabasco, Mexico; 5Research Unit, Juárez Hospital of Mexico, Ministry of Health, Mexico City, Mexico; 6Department of Molecular Biology, National Institute of Cardiology, Mexico City, Mexico; 7Psychiatric Care Services, National Institute of Genomic Medicine (INMEGEN), Health Secretary, Ministry of Health, Mexico City, Mexico; 8Sub-direction of Clinical Research, Children’s Psychiatric Hospital “Dr. Juan N. Navarro”, Mexico City, Mexico Background: It is accepted that there is a genetic factor that influences the risk of suicidal behavior. The catechol-O-methyltransferase (COMT) gene, especially the Val108/158Met polymorphism, has been associated with suicide; however, no conclusive outcome has been attained. Therefore, the aim of the present study was to assess the role of COMT Val108/158Met in suicidal behavior throughout an updated meta-analysis. Methods: We performed an online search using PubMed and Web of Science (up to March 2017). Our systematic review included case-control studies of individuals who attempted suicide and completed suicide. We tested allelic, homozygous, heterozygous, dominant, and recessive inheritance models. The meta-analysis was performed in accordance with the statement of Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Results: The meta-analysis comprised 17 studies, which included 3,282 cases and 3,774 controls, and showed that when evaluating the overall population, the Val108/158Met polymorphism of COMT was not associated with suicidal behavior in any of the inheritance models; however, the subanalyses showed that this polymorphism exhibits a risk factor in males and a protective effect in females. Additionally, it conveyed a risk factor in Asian populations when using the allelic (OR 1.25; CI: 1.04–1.51) and recessive models (OR 1.32; CI: 1.03–1.68). Conclusion: Our updated meta-analysis suggests a possible association between COMT Val108/158Met and suicidal behavior in Asian populations. However, in view of the small number of studies, these results should be considered exploratory. We recommend that more studies be performed with larger samples. Keywords: suicide, epidemiology, mental health, risk factors

In the title structure, C9H12O4, the mol­ecules assemble into a one-dimensional hydrogen-bonded chain of carboxylic dimers of extended C22(12)[ R22(8)] notation. [ABSTRACT FROM AUTHOR]

Background: Fontan circulation maintains an elevated venous pressure; this promotes venous and lymphatic congestion and may lead to late circuit failure. Our objective was to determine the association between thoracic lymphatic perfusion patterns assessed by magnetic resonance imaging and late Fontan failure., Methodology: A retrospective study was performed. We included patients who underwent the Fontan procedure between January 2005 and December 2019 and who were evaluated with lymphatic mapping using magnetic resonance imaging. Lymphatic abnormalities were classified into four types. The prevalence of late failure was determined, and logistic regression analysis was performed to establish the association between the variables of interest and the outcome., Results: Fifty-four patients were included with a mean age at surgery of 8.8 years ± 3.5 years; 42.6% (n = 23) were men. The most frequent diagnosis was tricuspid atresia (50%, n = 27), and the Fontan procedures were mainly performed using an extracardiac conduit (96.3%, n = 52). The prevalence of late Fontan failure was 35.2%. The lymphatic perfusion patterns observed were Type 1 in 25.9% (n = 14), Type 2 in 46.3% (n = 25), Type 3 in 25.9% (n = 14), and Type 4 in 1.8% (n = 1), with no differences in relation to late failure. ( p = 0.42). The age at surgery was found to be a factor associated with the late Fontan failure (OR: 1.23; 95% CI: 1.02-1.48; p = 0.02)., Conclusions: One-third of patients with Fontan circulation may experience late failure, not significantly associated with lymphatic changes, but when the total cavopulmonary connection is completed at an older age.

Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide. Within these malformations, septal defects such as ventricular (VSD) and atrial septal defects (ASD) are the most common forms of CHDs. Studies have reported that CHDs are the result of genetic and environmental factors. Here, we review and summarize the role of genetics involved in cardiogenesis and congenital cardiac septal defects. Moreover, treatment regarding these congenital cardiac septal defects is also addressed.

Metabolic Syndrome (MetS) refers to the co-occurrence of a constellation of metabolic diseases in the same individual, such as abdominal/visceral obesity, insulin resistance or diabetes, alterations in the lipid profile (dyslipidemias), and/or hypertension, which promotes the development of other cardiometabolic and hepatic diseases. Dyslipidemia and metabolic dysfunction- associated steatotic liver disease (MASLD), previously termed nonalcoholic fatty liver disease (NAFLD), are common MetS pathologies closely related to lipid metabolism. Alterations in the metabolism of proteins, carbohydrates, and lipids, caused by an excessive intake of nutrients and abnormal accumulation of body fat, which promotes chronic low-grade inflammation, are pivotal aspects of MetS development. To avoid damage caused by lipid overaccumulation, the transcription factors responsible for regulating lipid homeostasis and inflammation (named in this work master regulators) must modify their regular activity; however, the high adiposity established for long periods causes the appearance of insulin resistance (the MetS triggering factor most widely accepted in the literature). Fortunately, scientific evidence suggests that the abnormal activity of these regulators can be conveniently modulated by distinct species of bioactive lipids, among which unsaturated fatty acids stand out, offering new alternatives for treating MetS. Therefore, this work aims to provide a general overview of scientific evidence that supports the mechanisms of action and the effective modulation by bioactive lipids of some master lipid-metabolism-and-inflammation regulators in diverse aspects of MetS., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Nine new organotin (IV) derivatives from L-amino acids (l-lysine, L-ornithine, L-glutamic acid, and L-aspartic acid) were synthesized by one-pot ultrasound-assisted methodology. All compounds were characterized by ATR-FTIR (Attenuated Total Reflectance-Fourier Transform Infrared), LRMS (Low-Resolution Mass Spectrometry), and solution NMR ( 1 H, 13 C, 119 Sn Nuclear Magnetic Resonance) spectroscopies. Complexes Bu 2 Sn(Lys) (1), Ph 2 Sn(Lys) (2), Bu 2 Sn(Orn) (3), and Ph 2 Sn (Glu-OMe) (6a) were crystallized, and the structures were established by single-crystal X-ray diffraction analysis. Diffraction results evidenced that complexes 1 to 3 were five-coordinated mononuclear species while the phenyl substituted derivative Ph 2 Sn (Glu-OMe) (6a) forms a polymeric network via Sn-O-Sn bridging whereby the tin atom is six-coordinated. In turn, 119 Sn NMR results revealed that all tin complexes exist as mononuclear penta-coordinated species in solution. The tin derivatives were screened for ADME (Adsorption, Distribution, Metabolism, and Excretion) properties via the freely available tools SWISS ADME, and the results were analyzed hereafter. The antiproliferative activity of the complexes was tested against three human cancer cell lines: colorectal adenocarcinoma HT-29, breast adenocarcinoma MDA-MB-231, and chondrosarcoma SW-1353 using a non-tumoral cell line of human osteoblast as control, demonstrating selective inhibitory activities against cancer cells. Hence, these compounds could be a promising alternative to classical chemotherapy agents., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier Inc.)

Chondrosarcoma (CS) is a malignant bone tumor arising from cartilage-producing cells. The conventional subtype of CS typically develops within a dense cartilaginous matrix, creating an environment deficient in oxygen and nutrients, necessitating metabolic adaptation to ensure proliferation under stress conditions. Although ketone bodies (KBs) are oxidized by extrahepatic tissue cells such as the heart and brain, specific cancer cells, including CS cells, can undergo ketolysis. In this study, we found that KBs catabolism is activated in CS cells under nutrition-deprivation conditions. Interestingly, cytosolic β-hydroxybutyrate dehydrogenase 2 (BDH2), rather than mitochondrial BDH1, is expressed in these cells, indicating a specific metabolic adaptation for ketolysis in this bone tumor. The addition of the KB, β-Hydroxybutyrate (β-HB) in serum-starved CS cells re-induced the expression of BDH2, along with the key ketolytic enzyme 3-oxoacid CoA-transferase 1 (OXCT1) and monocarboxylate transporter-1 (MCT1). Additionally, internal β-HB production was quantified in supplied and starved cells, suggesting that CS cells are also capable of ketogenesis alongside ketolysis. These findings unveil a novel metabolic adaptation wherein nutrition-deprived CS cells utilize KBs for energy supply and proliferation., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 Published by Elsevier Ltd.)

The interleukin-17 (IL-17) has a crucial role during inflammation and has been associated with cardiovascular diseases, but its role in epigenetics is still poorly understood. Therefore, the aim of this study was to evaluate the DNA methylation status of the IL-17A gene promoter to establish whether it may represent a risk factor for subclinical atherosclerosis (SA) or clinical coronary artery disease (CAD). We included 38 patients with premature CAD (pCAD), 48 individuals with SA, and 43 healthy controls. Methylation in the CpG region of the IL-17A gene promoter was assessed via methylation-specific polymerase chain reaction (MSP). Individuals with SA showed increased methylation levels compared to healthy controls and pCAD patients, with p < 0.001 for both. Logistic regression analysis showed that high methylation levels represent a significant risk for SA (OR = 5.68, 95% CI = 2.38-14.03, p < 0.001). Moreover, low methylation levels of the IL-17A gene promoter DNA represent a risk for symptomatic pCAD when compared with SA patients (OR = 0.16, 95% CI = 0.06-0.41, p < 0.001). Our data suggest that the increased DNA methylation of the IL-17A gene promoter is a risk factor for SA but may be a protection factor for progression from SA to symptomatic CAD.

(1) Background: Previous studies have enriched high-density lipoproteins (HDL) using cholesteryl esters in rabbits with a three-quarter reduction in functional renal mass, suggesting that the kidneys participate in the cholesterol homeostasis of these lipoproteins. However, the possible role of the kidneys in lipoprotein metabolism is still controversial. To understand the role of the kidneys in regulating the HDL lipid content, we determined the turnover of HDL-cholesteryl esters in rabbits with a three-quarter renal mass reduction. (2) Methods: HDL subclass characterization was conducted, and the kinetics of plasma HDL-cholesteryl esters, labeled with tritium, were studied in rabbits with a 75% reduction in functional renal mass (Ntx). (3) Results: The reduced renal mass triggered the enrichment of cholesterol, specifically cholesteryl esters, in HDL subclasses. The exchange of cholesteryl esters between HDL and apo B-containing lipoproteins (VLDL/LDL) was not significantly modified in Ntx rabbits. Moreover, the cholesteryl esters of HDL and VLDL/LDL fluxes from the plasmatic compartment tended to decrease, but they only reached statistical significance when both fluxes were added to the Nxt group. Accordingly, the fractional catabolic rate (FCR) of the HDL-cholesteryl esters was lower in Ntx rabbits, concomitantly with its accumulation in HDL subclasses, probably because of the reduced mass of renal cells requiring this lipid from lipoproteins.

Right atrial isomerism (RAI) is a complex entity with varying diagnostic and treatment outcomes due to its rarity. Treatment options range from palliative to corrective surgeries, resulting in heterogeneous outcomes. The aim of this study was to analyze the results obtained after cardiac surgery in patients with RAI. A retrospective study was conducted, including patients diagnosed with RAI who underwent cardiac surgery. Their follow-up was from 1 January 2010 to 31 March 2020. Demographic characteristics and perioperative conditions were described. Thirty-eight patients were included, the median age was 4 years (IQR 2-9.2) and 57.9% were men. The main diagnoses were atrioventricular canal (63.2%) and pulmonary stenosis (55.3%). The most common surgical procedures were modified Blalock-Taussig shunt (65.8%) and total cavopulmonary connection with an extracardiac conduit fenestrated without cardiopulmonary bypass (15.9%). We did not find any factors associated with negative outcomes in these patients. The overall survival was 86.8%, with a better outcome in those who did not require reintubation (log rank, p < 0.01). The survival of RAI was similar to other centers. Individuals with RAI should be evaluated rigorously to determine an adequate repair strategy, considering high morbidity and mortality.

A cluster of three genes CELSR2 , PSRC1 , and SORT1 has been associated with cardiovascular diseases. Thus, the aim of this study was (i) to perform a systematic review and updated meta-analysis of the association of three polymorphisms (rs646776, rs599839, and rs464218) of this cluster with cardiovascular diseases, and (ii) to explore by PheWAS signals of the three SNPs in cardiovascular diseases and to evaluate the effect of rs599839 with tissue expression by in silico tools. Three electronic databases were searched to identify eligible studies. The meta-analysis showed that the rs599839 (allelic OR 1.19, 95% CI 1.13-1.26, dominant OR 1.22, 95% CI 1.06-1.39, recessive OR 1.23, 95% CI 1.15-1.32), rs646776 (allelic OR 1.46, 95% CI 1.17-1.82) polymorphisms showed an increased risk for cardiovascular diseases. PheWas analysis showed associations with coronary artery disease and total cholesterol. Our results suggest a possible involvement of the CELSR2-PSRC1-SORT1 cluster variants in the risk association of cardiovascular diseases, particularly coronary artery disease.

The TBX20 gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). The purpose of this study was to assess the association between DNA methylation status and congenital septal defects. The DNA methylation of seven CpG sites in the TBX20 gene promoter was analyzed through pyrosequencing as a quantitative method in 48 patients with congenital septal defects and 104 individuals with patent ductus arteriosus (PDA). The average methylation was higher in patients than in PDA ( p < 0.001). High methylation levels were associated with a higher risk of congenital septal defects (OR = 4.59, 95% CI = 1.57-13.44, p = 0.005). The ROC curve analysis indicated that methylation of the TBX20 gene could be considered a risk marker for congenital septal defects (AUC = 0.682; 95% CI = 0.58-0.77; p < 0.001). The analysis of environmental risk factors in patients with septal defects and PDA showed an association between the consumption of vitamins (OR = 0.10; 95% CI = 0.01-0.98; p = 0.048) and maternal infections (OR = 3.10; 95% CI = 1.26-7.60; p = 0.013). These results suggest that differences in DNA methylation of the TBX20 gene can be associated with septal defects.

Background: Non-alcoholic fatty liver disease (NAFLD) is now considered the most common chronic liver disease worldwide. NAFLD is related to changes in lipid metabolism and is characterized by the increase or accumulation of fat in hepatocytes that may progress to nonalcoholic steatohepatitis (NASH), which leads to the appearance of inflammatory processes. Treatment consists of changes in diet, physical activity, and weight control; however, these disorders represent a health problem and require the development of novel alternatives to treatment and prevention. NAFLD/NASH are strongly associated with other disorders, such as metabolic syndrome (MetS); in fact, NAFLD is considered the hepatic manifestation of MetS. These disorders are related to other components of MetS, including dyslipidemia, which is characterized by an imbalance in blood cholesterol and triglyceride levels. Prebiotics and probiotics benefit from treating and preventing several ailments, including liver diseases. Specifically, in dyslipidemia, NAFLD, and NASH, probiotics play a fundamental role in conducting the biotransformation of primary bile acids into secondary bile acids, which generally have important activity as immunomodulators and metabolism regulators. The mechanisms of action of pre and probiotics involve the activity of bile acid receptors, such as FXR and TGR-5, and the events resulting from their activation. Therefore, prebiotics and probiotics may be reasonable options to prevent and treat metabolic- related liver diseases., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

The increase in carotid intima-media thickness (CIMT) and coronary artery calcification (CAC) are features of subclinical atherosclerosis that might be determined by the genetic background of patients. Among the multiple risk factors, the proprotein convertase subtilisin kexin type 9 (PCSK9) has a great impact on atheroma development. Then, we focused on the potential association of the PCSK9 gene polymorphism (rs2149041) with the risk of an increased CIMT. We included 881 unrelated, asymptomatic individuals (732 normal CIMT and 149 increased CIMT) who lacked coronary calcification (CAC score = 0). Under the recessive inheritance model and adjusted by several cardiovascular risk factors, the rs2149041 polymorphism, determined by TaqMan genotyping assay, was associated with a high risk of increased CIMT (OR = 2.10, 95% IC = 1.26-3.47, P recessive = 0.004). Our results suggest that the rs2149041 polymorphism could be a risk marker for increased CIMT in asymptomatic individuals without coronary artery disease determined by the absence of a CAC score.

Background: The association between H. pylori infection and coronary artery disease (CAD) is well-known. Alterations in DNA methylation in CAD have been reported, which can be induced by H. pylori through the DNA demethylases (DNMTs). The objective was to analyze the association and interaction of H. pylori infection and DMNT3a gene polymorphisms with premature CAD (pCAD) and subclinical atherosclerosis (SA)., Methods: The study included 561 patients with pCAD, 318 subjects with SA, and 599 healthy controls. Antibodies against H. pylori and DNMT3a rs13420827, rs752208, and rs1550117 polymorphisms were determined., Results: The pCAD group presented the highest seroprevalence of H. pylori infection (87.7%) compared to the SA (74.5%, p = 1 × 10 -6 ) and the control group (63.1%, p = 7 × 10 -23 ). A significant association was observed between H. pylori infection and pCAD (OR = 2.729, p = 1.0 × 10 -6 ). The rs13420827 polymorphism was associated with a high risk of H. pylori infection in the whole population (p additive  = 0.009, p dominant  = 0.018, and p codominant2  = 0.013) and in individuals with SA (p additive  = 0.003, p dominant  = 0.020, p recessive  = 0.013, and p codominant2  = 0.005). The coexistence of H. pylori infection and the rs13420827GG genotype increases the risk of pCAD (p interaction  = 1.1 × 10 -5 )., Conclusions: According to the model adjusted for more confounding variables, H. pylori infection was associated with almost three times the risk of developing pCAD. The rs13420827G allele was associated with an increased risk of H. pylori infection in the whole population and in individuals with SA. Individuals in whom H. pylori infection and the rs13420827GG genotype coexist are at increased risk of pCAD., Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Taurine, a cysteine-derived zwitterionic sulfonic acid, is a common ingredient in energy drinks and is naturally found in fish and other seafood. In humans, taurine is produced mainly in the liver, and it can also be obtained from food. In target tissues, such as the retina, heart, and skeletal muscle, it functions as an essential antioxidant, osmolyte, and antiapoptotic agent. Taurine is also involved in energy metabolism and calcium homeostasis. Taurine plays a considerable role in bone growth and development, and high-profile reports have demonstrated the importance of its metabolism for bone health. However, these reports have not been collated for more than 10 years. Therefore, this review focuses on taurine-bone interactions and covers recently discovered aspects of taurine's effects on osteoblastogenesis, osteoclastogenesis, bone structure, and bone pathologies (e.g., osteoporosis and fracture healing), with due attention to the taurine-cartilage relationship.

The components of metabolic syndrome (MetS) and hepatogastrointestinal diseases are widespread worldwide, since many factors associated with lifestyle and diet influence their development and correlation. Due to these growing health problems, it is necessary to search for effective alternatives for prevention or adjuvants in treating them. The positive impact of regulated microbiota on health is known; however, states of dysbiosis are closely related to the development of the conditions mentioned above. Therefore, the role of prebiotics, probiotics, or symbiotic complexes has been extensively evaluated; the results are favorable, showing that they play a crucial role in the regulation of the immune system, the metabolism of carbohydrates and lipids, and the biotransformation of bile acids, as well as the modulation of their central receptors FXR and TGR-5, which also have essential immunomodulatory and metabolic activities. It has also been observed that they can benefit the host by displacing pathogenic species, improving the dysbiosis state in MetS. Current studies have reported that paraprobiotics (dead or inactive probiotics) or postbiotics (metabolites generated by active probiotics) also benefit hepatogastrointestinal health.

Subclinical atherosclerosis (SA) is the presence of coronary calcification in the absence of cardiovascular symptoms, and it usually progresses to atherosclerotic disease. Studies have shown an association of osteoprotegerin gene (OPG) variants with calcification process in cardiovascular diseases; however, to this day there are no studies that evaluate individuals in the asymptomatic stage of atherosclerotic disease. Therefore, the purpose of this study was to analyze the association of four genetic variants and haplotypes of the OPG gene with the development of SA, through TaqMan genotyping assays. We also aimed to identify potential response elements for transcription factors in these genetic variants. The study included 1413 asymptomatic participants (1041 were controls and 372 were individuals with SA). The rs3102735 polymorphism appeared as a protective marker (OR = 0.693; 95% CI = 0.493−0.974; pheterozygote = 0.035; OR = 0.699; 95% CI = 0.496−0.985; pcodominant 1 = 0.040) and two haplotypes were associated with SA, one as a decreased risk: GACC (OR = 0.641, 95% CI = 0.414−0.990, p = 0.045) and another as an increased risk: GACT (OR = 1.208, 95% CI = 1.020−1.431, p = 0.029). Our data suggest a lower risk of SA in rs3102735 C carriers in a representative sample of Mexican mestizo population.

The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the TBX5 gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the TBX5 gene promoter were evaluated using pyrosequencing analysis in 35 patients with congenital septal defects and 48 controls. Average methylation levels were higher in individuals with congenital septal defects than in the controls ( p < 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls ( p < 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02-14.8; p = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the TBX5 gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56-0.80; p = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01-8.33; p = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the TBX5 gene could be associated with congenital septal defects.