Prolonged postnatal adaptation and enhanced prevalence of congenital heart diseases due to altitude may contribute to newborn mortality in Bolivia.

Highland populations suffer from significant infant mortality due to chronic ambient hypoxia, which increases the risk of congenital heart disease (CHD) and neonatal pulmonary hypertension. Neither the prevalence of these conditions nor the effectiveness of neonatal cardiac screening to identify CHD or pulmonary hypertension among neonates born at altitudes >4000 m in Bolivia has been reported. In a study of 1033 newborns in El Alto, Bolivia (4510 m), we determined the prevalence of CHD and prolonged postnatal adaptation.

Adherence to the Mediterranean Diet and Obesity-Linked Cancer Risk in EPIC.

Importance: Adherence to the Mediterranean Diet (MedDiet) has been associated with a lower incidence of cancer and reduced weight gain. These associations suggest a potential role for the MedDiet in lowering the risk of obesity-related cancers (ORCs). Obesity is a known risk factor for various cancers and shows an inverse association with MedDiet adherence.

Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease.

Background And Objectives: Investigation into different allelic variants may yield new associative genes to predict late-onset Alzheimer disease (LOAD). Variable number tandem repeats (VNTRs) are important polymorphic components of the genome; however, they have been previously overlooked because of their complex genotyping. New software can now determine differing lengths of VNTRs; however, this has not been tested in a large case-control population.

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

The contribution of rare pathogenic/likely pathogenic (P/LP) germline variants to pediatric central nervous system (CNS) tumor development remains understudied. Here, we characterized the prevalence and clinical significance of germline P/LP variants in cancer predisposition genes across 830 CNS tumor patients from the Pediatric Brain Tumor Atlas (PBTA). We identified germline P/LP variants in 24.

Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits.

Genetic research on nicotine dependence has utilized multiple assessments that are in weak agreement. We conducted a genome-wide association study of nicotine dependence defined using the Diagnostic and Statistical Manual of Mental Disorders (DSM-NicDep) in 61,861 individuals (47,884 of European ancestry, 10,231 of African ancestry, 3,746 of East Asian ancestry) and compared the results to other nicotine-related phenotypes. We replicated the well-known association at the locus (lead SNP: rs147144681, p =1.