Frontotemporal degeneration genetic risk loci and transcription regulation as a possible mechanistic link to disease risk.

The etiology of Frontotemporal Degeneration (FTD) is not well understood. Genetic studies have established common genetic variants (GVs) that are associated with increased FTD risk. We review previous genome wide association studies (GWAS) of FTD and nominate specific transcriptional regulators as potential key players in the etiology of this disease. A list of GVs associated with FTD was compiled from published GWAS. The regulatory element locus intersection (RELI) tool was used to calculate the enrichment of the overlap between disease risk GVs and the genomic coordinates of data from a collection of >10,000 chromatin immunoprecipitation (ChIP-seq) experiments. After linkage disequilibrium expansion of the previously reported tag associated GVs, we identified 914 GV at 47 independent risk loci. Using the RELI algorithm, we identified several transcriptional regulators with enriched binding at FTD risk loci (0.05 < corrected P value <1.18 × 10-27), including Tripartite motif-containing 28 (TRIM28) and Chromodomain-Helicase DNA-binding 1 (CHD1) which have previously observed roles in FTD. FTD is a complex disease, and immune dysregulation has been previously implicated as a potential underlying cause. This assessment of established FTD risk loci and analysis of possible function implicates transcriptional dysregulation, and specifically particular transcriptional regulators with known roles in the immune response as important in the genetic etiology of FTD.

Características fenotípicas y factores de riesgo de síndrome de ovario poliquístico en estudiantes enfermeras / Phenotype characteristics and risk factors of polycystic ovarian syndrome among nursing students

Background: Polycystic ovarian syndrome (PCOS) is a common endocrine condition that occurs in women and is associated with problems such as menstrual irregularities; hirsutism; obesity; insulin resistance; acne; and later life with diabetes mellitus and uterine cancer. The study aim was to assess phenotype characteristics and risk factors of polycystic ovarian syndrome among nursing students. Cross sectional study (descriptive) included a sample of 400 females from Faculty of Nursing, Zagazig University, Egypt.Tools were used for data collection; structured-interviewing questionnaire sheet, data related to anthropometric measures, risk factors about PCOS and observational check list about phenotype characteristics of PCO. The results showed that, (6%) of the studied student females had family history of PCO, nearly half of them had fast food, more than half of studied student females had hirsutism, more than one quarter had acne, (14.5%) had menstrual irregularity and one third of them had continuous abnormal weight gain. Also, this study showed that lack of awareness were found among majority of girls about PCOS. Therefore, it could be concluded that, family history of PCOS, obesity and fast food diet habits are found to be the predisposing factors for development of PCOS. The risk of PCOS increases with presence of one or more identified predisposing factors. Most of the factors tested as predisposing factors in our study are interlinked to each other and are mostly modifiable Although that PCOS is prevalent endocrine disorder, there was poor knowledge among student females in Faculty of Nursing Zagazig University. The study recommended screening program from ministry of health for early detection of predisposing factors of PCOS including the secondary school students and faculties students through educational programs and messages through the counseling, brochures, to increase student's awareness about PCOS symptoms. Further research on larger sample size to identify how the problem is risky and how to deal it. Including the problem in social media and healthy channels. K