Pathogenesis of eosinophilic esophagitis: A comprehensive review of the genetic and molecular aspects

Eosinophilic esophagitis (EoE) is a relatively new condition described as an allergicmediated disease of the esophagus. Clinically, it is characterized by dysphagia, food impaction, and reflux-like symptoms. Multiple genome-wide association studies (GWAS) have been conducted to identify genetic loci associated with EoE. The integration of numerous studies investigating the genetic polymorphisms in EoE and the Mendelian diseases associated with EoE are discussed to provide insights into the genetic risk of EoE, notably focusing on CCL26 and CAPN14. We focus on the genetic loci investigated thus far, and their classification according to whether the function near the loci is known. The pathophysiology of EoE is described by separately presenting the known function of each cell and molecule, with the major contributors being eosinophils, Th2 cells, thymic stromal lymphopoietin (TSLP), transforming growth factor (TGF)-β1, and interleukin (IL)-13. This review aims to provide detailed descriptions of the genetics and the comprehensive pathophysiology of EoE

Targeted next-generation sequencing for the identification of genetic predictors of radiation-induced late skin toxicity in breast cancer patients: A preliminary study

Normal tissue radiosensitivity is thought to be influenced by an individual’s genetic back-ground. However, the specific genetic variants underlying the risk of late skin reactions following radiotherapy for breast cancer remain elusive. To unravel the genetic basis for radiation-induced late skin toxicity, we carried out targeted next-generation sequencing of germline DNA samples from 48 breast cancer patients with extreme late skin toxicity phenotypes, consisting of 24 cases with grade 2–3 subcutaneous fibrosis and/or grade 2–3 telangiectasia (LENT-SOMA scales) and 24 controls with grade 0 fibrosis and grade 0 telangiectasia. In this exploratory study, a total of five single-nucleotide variants (SNVs) located in three genes (TP53, ERCC2, and LIG1) reached nominal levels of statistical significance (p C, Pro72Arg) in the replication cohort had an effect (OR per C allele: 1.52, 95%CI: 0.82–2.83, p = 0.186) in the same direction as in the exploratory cohort (OR per C allele: 4.70, 95%CI: 1.51–14.6, p = 0.007) and was found be nominally associated to the risk of radiation-induced late skin toxicity in the overall combined cohort (OR per C allele: 1.79, 95%CI: 1.06–3.02, p = 0.028). These results raise the possibility of an association between TP53 rs1042522 and risk of radiation-induced late skin toxicity in breast cancer patients; however, large replication studies are warranted for conclusive evidence

Estabilidade genética em genótipos de trigo estimada pela viabilidade polínica.

Objetivou-se estimar a estabilidade genética de 170 genótipos de trigo por meio da viabilidade polínica. Os genótipos foram provenientes do Banco Ativo de Germoplasma e dos ensaios de Valor e Cultivo e Uso da Embrapa Trigo, no período 2011 a 2013. Foram coletadas espigas em pré-antese, fixadas em Carnoy 3:1 e armazenadas em álcool 70%. As lâminas citológicas foram preparadas pela técnica de ?Squash? e corante carmin acético 1%. As análises foram em microscopia ótica, com três repetições e 1500 células/genótipo. Os resultados indicaram que 98% dos genótipos apresentaram viabilidade polínica acima de 95%, identificados como estáveis. Quanto às anormalidades, foram observados grãos de pólens vazios na maioria dos genótipos, mas com incidência muito baixas, não significativas

Estabilidade de genótipos de feijoeiro-comum com grãos pretos em goiás e distrito federal nos anos de 2009 e 2010.

O objetivo do trabalho foi identificar genótipos de feijoeiro-comum de grãos pretos com alta adaptabilidade e estabilidade de produção no Estado de Goiás e no Distrito Federal.CONAFE