Context: Graves disease (GD) is a common autoimmune disease triggered by genetic predisposition and environmental factors. However, the mechanisms of interaction between genetic and environmental factors contributing to the development of GD remain unknown.
Objective: We aimed to identify GD susceptibility variants and genes on Xq21.1 locus and interpret the contribution of interaction between genetic predisposition on Xq21.1 and environmental factors to GD.
Design: We performed refining study on Xq21.1 in a 2-stage study and carried out expression quantitative trait locus analysis of the best association signal with GD.
Setting And Participants: A total of 4316 GD patients and 4374 sex-matched controls were collected from the Chinese Han population by cooperation with multiple hospitals.
Results: We identified that rs3827440 or its linkage single nucleotide polymorphisms (SNPs) were probably the causal variant in the Xq21.1 locus, with the most substantial association with GD in our combined cohorts (P = 2.45 × 10-15). The genotypes of rs3827440 were correlated with the expression of ITM2A in monocytes and peripheral blood mononuclear cells (PBMCs) from healthy volunteers. Notably, the expression of ITM2A in monocytes after lipopolysaccharide (LPS) and interferon-γ (INF-γ) stimulation showed substantial difference among the volunteers that carried different genotypes of rs3827440 (P = 9.40 × 10-7 and P = 1.26 × 10-5 for 24 hours' LPS and INF-γ stimulation, respectively). Moreover, ITM2A expression was significantly decreased in PBMCs from untreated GD patients than that from controls.
Conclusion: The results suggest that ITM2A might be a susceptibility gene for GD in the Xq21.1 locus, and environmental factors, such as viral and bacterial infections, probably contribute to GD pathogenesis by interacting with the risk SNP rs3827440 mediating the regulation of ITM2A expression.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1210/jc.2016-2625 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Medical Termination of Pregnancy: Law and Controversies in the United States and Australia.
J Law Med
November 2024
Barrister, Castan Chambers, Melbourne, Australia; Professor of Law and Professorial Fellow in Psychiatry, University of Melbourne; Honorary Professor of Forensic Medicine, Monash; Adjunct Professor, Southern Cross University.
This editorial reviews the changes over two decades in the United States and Australia in relation to the law governing access to drugs enabling medical termination of pregnancy. It also scrutinises three contentious decisions by the United States Supreme Court between 2022 and 2024 in relation to abortion. It argues that the receptive environment in the United States Supreme Court, as it is currently constituted, to challenges to the lawfulness of terminations of pregnancy and abortion medications is likely to inspire comparable challenges as part of the "Abortion Wars" in other countries, including Australia.
View Article and Find Full Text PDFPsychosocial risks and mental health of preschool care providers in Kuala Lumpur, Malaysia: a cross-sectional study.
BMC Psychol
January 2025
Health Department of Kuala Lumpur and Putrajaya, Health office of Lembah Pantai District, Ministry of Health, Kuala Lumpur, Malaysia.
Background: Child maltreatment in daycare is a public health issue. As childcare is stressful, high care provider negativity independently predicts more internalizing behaviour problems, affecting children's psycho-neurological development. This study aimed to determine psychosocial factors associated with the mental health of preschool care providers in Kuala Lumpur.
View Article and Find Full Text PDFAssociations of short-term exposure to air pollution with risk of pulmonary space-occupying lesions morbidity based on a time-series study.
BMC Public Health
January 2025
Department of Thoracic Surgery, the 2nd Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, 050000, PR China.
Background: Pulmonary space-occupying lesions are typical chronic pulmonary diseases that contribute significantly to healthcare resource use and impose a large disease burden in China. A time-series ecological trend study was conducted to investigate the associations between environmental factors and hospitalizations for pulmonary space-occupying lesions in North of China from 2014 to 2022.
Methods: The DLNM was used to quantify the association of environmental factors with lung cancer admissions.
Applying principles of adult learning to rural health electives in a medical school curriculum.
BMC Med Educ
January 2025
Department of Rural Health, Melbourne Medical School, The University of Melbourne, 49 Graham Street, Shepparton, VIC, 3630, Australia.
The health disparities between rural and urban populations in Australia, driven by socioeconomic, environmental, and healthcare access factors, highlight the urgent need for rural-focused medical education. The Melbourne Medical School's Rural Health Discovery program addresses this need by integrating adult learning principles within a redesigned curriculum that includes the Rural Health Foundations and Integrating Rural Health topics. These Discovery topics engage medical students from diverse backgrounds through a blend of self-directed learning, problem-solving, and immersive clinical placements in rural settings.
View Article and Find Full Text PDFImplementing a workplace participatory approach to support working caregivers in balancing their work, private life and informal care: results of a process evaluation.
BMC Public Health
January 2025
National Institute for Public Health and the Environment, Center for Prevention, Lifestyle and Health, Department Behaviour and Health, Antonie van Leeuwenhoeklaan 9, Bilthoven, 3721 MA, The Netherlands.
Background: Many organizations are faced with growing numbers of employees who combine their jobs with informal caregiving responsibilities. To support working caregivers in maintaining a good balance between work, private life and informal care, a workplace participatory approach (PA) intervention was implemented in four Dutch organizations. This study's aims were to evaluate the degree of PA implementation, contextual factors influencing implementation, and stakeholder experiences with the PA.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!