ABSTRACT
BACKGROUND: Type 2 diabetes (T2D) susceptibility is influenced by genetic and environmental factors. Previous findings suggest DNA methylation as a potential mechanism in T2D pathogenesis and progression. METHODS: We profiled DNA methylation in 248 blood samples from participants of European ancestry from 7 twin cohorts using a methylation sequencing platform targeting regulatory genomic regions encompassing 2,048,698 CpG sites. FINDINGS: We find and replicate 3 previously unreported T2D differentially methylated CpG positions (T2D-DMPs) at FDR 5% in RGL3, NGB and OTX2, and 20 signals at FDR 25%, of which 14 replicated. Integrating genetic variation and T2D-discordant monozygotic twin analyses, we identify both genetic-based and genetic-independent T2D-DMPs. The signals annotate to genes with established GWAS and EWAS links to T2D and its complications, including blood pressure (RGL3) and eye disease (OTX2). INTERPRETATION: The results help to improve our understanding of T2D disease pathogenesis and progression and may provide biomarkers for its complications. FUNDING: Funding acknowledgements for each cohort can be found in the Supplementary Note.
Subject(s)
CpG Islands , DNA Methylation , Diabetes Mellitus, Type 2 , Humans , Diabetes Mellitus, Type 2/genetics , Female , Male , Genome-Wide Association Study , Genetic Predisposition to Disease , Middle Aged , Epigenesis, Genetic , Otx Transcription Factors/genetics , Otx Transcription Factors/metabolism , Diabetes Complications/genetics , Gene Expression ProfilingABSTRACT
The Murcia Twin Registry (MTR) is the only population-based registry in Spain. Created in 2006, the registry has been growing more than a decade to become one of the references for twin research in the Mediterranean region. The MTR database currently comprises 3545 adult participants born between 1940 and 1977. It also holds a recently launched satellite registry of university students (N = 204). Along five waves of data collection, the registry has gathered questionnaire and anthropometric data, as well as biological samples. The MTR keeps its main research focus on health and health-related behaviors from a public health perspective. This includes lifestyle, health promotion, quality of life or environmental conditions. Future short-term development points to the expansion of the biobank and the continuation of the collection of longitudinal data.
Subject(s)
Biomedical Research , Diseases in Twins/epidemiology , Health Behavior , Quality of Life , Registries/statistics & numerical data , Twins, Dizygotic/genetics , Twins, Monozygotic/genetics , Adult , Diseases in Twins/genetics , Diseases in Twins/psychology , Female , Follow-Up Studies , Health Promotion , Humans , Life Style , Longitudinal Studies , Male , Spain/epidemiology , Surveys and QuestionnairesABSTRACT
Introducción: Los pacientes deben contribuir de manera decisiva en la definición de lo deseable o indeseable de la atención sanitaria. Para medir la satisfacción existen muchos instrumentos. Nosotros hemos elegido el SERVQHOS, una adaptación al ámbito hospitalario español de la encuesta SERVQUAL (un reconocido instrumento para medir la calidad asistencial percibida en el ámbito empresarial). Objetivos: Detectar y analizar factores que contribuyen a la satisfacción e insatisfacción del paciente. Metodología: Estudio transversal realizado en el Hospital Universitario La Paz de Madrid que abarca el período entre el 15 y el 31 de octubre de 2001. Se empleó un cuestionario, que fue aplicado a una muestra de 580 pacientes dados de alta. Se realizó un análisis descriptivo, y para identificar factores asociados con la insatisfacción, se efectuó un análisis de regresión logística. Resultados: La población satisfecha correspondió al 90,6% de los pacientes, y la insatisfecha, al 9,4%. La puntuación SERVQHOS global fue de 3,87 ± 0,30, y aplicando el factor de corrección usado por Hall y Dornan, fue de 0,71. Los factores relacionados con la insatisfacción como resultado de la regresión logística son: ser mujer, no recibir suficiente información, ingreso de forma programada, no haber tenido ingresos previos y el hecho de no recomendar el hospital. Una de las principales quejas de los pacientes fue la falta de confort de las habitaciones. Discusión: La población satisfecha dio una gran importancia al factor humano (calidad subjetiva) o, dicho según los propios pacientes, a la buena atención recibida. Por el contrario, la población insatisfecha, poco numerosa, se quejó de los componentes de la calidad objetiva, como tiempos de espera, confort e información. Las características sociodemográficas son factores no modificables, y por lo tanto no sería ético dar un trato asistencial en función de ellas. Pero sí podemos actuar sobre factores como la información, los tiempos de espera y el confort (AU)
Introduction: Patients are the best source of information about what is desirable or undesirable in healthcare. Many instruments are available to measure patient satisfaction. We chose SERVQHOS, an adaptation of SERVQUAL to a hospital environment. SERVQUAL has been recognized as a valid instrument for measuring consumer perceptions of service quality. Objectives: To detect and analyze factors contributing to patient satisfaction and dissatisfaction. Methodology: We carried out a cross-sectional study in the Hospital Universitario La Paz in Madrid, Spain, covering the period from 15th to 31st of October. The SERVQHOS questionnaire was applied to 580 discharged patients. A descriptive analysis was performed and multivariate logistic regression was used to identify factors associated with dissatisfaction. Results: A total of 90.6% of the patients were satisfied and 9.4% expressed dissatisfaction. The overall SERVQHOS score was 3.87 ± 0.30 and it was 0.71 according to correction based on Hall and Bornan when Hall and Dornans standardization method was applied. The characteristics associated with dissatisfaction after multivariate logistic regression were female gender, lack of information, scheduled admission, no previous admissions and not recommending the hospital. One of the main complaints was the lack of comfort on the wards. Discussion: Satisfied patients gave greater importance to human behavior (subjective quality) or, in their own words, the good healthcare provided than to other factors. In contrast, the small number of dissatisfied patients gave greater importance to objective factors such as waiting times, comfort and information. Sociodemographic characteristics cannot be changed and therefore modifying healthcare according to these factors would not be ethical. However, other factors such as information, waiting times and comfort can be modified (AU)
