Regression models as a tool for genome-wide association studies of Environmental Exposures and DNA Methylation

Epigenetic modifications are correlated to environmental factors. Exposure to ambient air pollution may contribute to the development of different diseases such as cancer, cardiovascular diseases, and neurological and metabolic disorders. Looking for the association between DNA methylation and exposure biomarkers may help in the prevention of adverse effects. Association analysis can be carried out through regression modeling.

Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer

CRC is an adult-onset carcinoma representing the third most common cancer and the second leading cause of cancer-related deaths in the world. EO-CRC (<45 years of age) accounts for 5% of the CRC cases and is associated with cancer-predisposing genetic factors in half of them. Here, we describe the case of a woman affected by BWSp who developed EO-CRC at age 27. To look for a possible molecular link between BWSp and EO-CRC, we analysed her whole-genome genetic and epigenetic profiles in blood, and peri-neoplastic and neoplastic colon tissues.

ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming

first_pagesettingsOrder Article Reprints Open AccessArticle ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming by Ankit Verma 1,2,+ORCID,Varsha Poondi Krishnan 2,+ORCID,Francesco Cecere 1ORCID,Emilia D'Angelo 1ORCID,Vincenzo Lullo 2ORCID,Maria Strazzullo 2ORCID,Sara Selig 3,4ORCID,Claudia Angelini 5ORCID,Maria R.

The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memory

Bi-allelic hypomorphic mutations in DNMT3B disrupt DNA methyltransferase activity and lead to immunodeficiency, centromeric instability, facial anomalies syndrome, type 1 (ICF1). Although several ICF1 phenotypes have been linked to abnormally hypomethylated repetitive regions, the unique genomic regions responsible for the remaining disease phenotypes remain largely uncharacterized.

Large time behavior of signed fractional porous media equations on bounded domains

Following the methodology of Brasco (Adv Math 394:108029, 2022), we study the long-time behavior for the signed fractional porous medium equation in open bounded sets with smooth boundary. Homogeneous exterior Dirichlet boundary conditions are considered. We prove that if the initial datum has sufficiently small energy, then the solution, once suitably rescaled, converges to a nontrivial constant sign solution of a sublinear fractional Lane-Emden equation.
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