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| http://dx.doi.org/10.1016/j.ihj.2018.07.003 | DOI Listing |
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Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFDespite considerable advances in identifying risk factors for obesity development, there remains substantial gaps in our knowledge about its etiology. Variation in obesity (defined by BMI) is thought to be due in part to heritable factors; however, obesity-associated genetic variants only account for a small portion of heritability. Epigenetic regulation, defined by genetic and/or environmental factors with changes in gene expression, may account for some of this "missing heritability".
View Article and Find Full Text PDFMultiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative disease affecting the brain and spinal cord. Genetic studies have identified many risk loci, that were thought to primarily impact immune cells and microglia. Here, we performed a multi-ancestry genome-wide association study with 20,831 MS and 729,220 control participants, identifying 236 susceptibility variants outside the Major Histocompatibility Complex, including four novel loci.
View Article and Find Full Text PDFThe diagnosis of eosinophilic granulomatosis with polyangiitis has been 'masked' by asthma: a case report.
AME Case Rep
December 2024
The PLA Center of Respiratory and Allergic Disease Diagnosing Management, General Hospital of Northern Theater Command, Shenyang, China.
Background: Patients with asthma exhibit a significantly heightened susceptibility to eosinophilic granulomatosis with polyangiitis (EGPA) when compared to the general population. Vigilance for EGPA manifestations is crucial, especially in cases where asthma remains poorly controlled despite high-dose corticosteroid therapy or when eosinophil counts exceed 5%. The diagnosis of EGPA can be complex due to the absence of definitive biomarkers, as indicated by the American College of Rheumatology (ACR)'s 1990 classification criteria.
View Article and Find Full Text PDFThe added value of ECG abnormalities in predicting incident cardiovascular disease risk for people with type 2 diabetes: The Hoorn Diabetes Care System cohort.
Eur J Prev Cardiol
January 2025
Amsterdam UMC location Vrije Universiteit Amsterdam, Department of General Practice Medicine, De Boelelaan 1117, Amsterdam, The Netherlands.
Aims: To investigate if adding ECG abnormalities as a predictor improves the performance of incident CVD-risk prediction models for people with type 2 diabetes (T2D).
Methods: We evaluated the four major prediction models that are recommended by the guidelines of the American College of Cardiology/American Heart Association and European Society of Cardiology, in 11,224 people with T2D without CVD (coronary heart disease, heart failure, stroke, thrombosis) from the Hoorn Diabetes Care System cohort (1998-2018). Baseline measurements included CVD-risk factors and ECG recordings coded according to the Minnesota Classification as no, minor or major abnormalities.
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