Publications by authors named "K N D van Eijk"
Sex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).
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- ALS is a fatal neurodegenerative disease primarily affecting motor neurons, with mitochondrial function playing a critical role in its progression.
- Researchers identified specific mitochondrial haplotypes linked to mitochondrial function that influence survival rates in ALS patients, but not the initial risk of developing the disease.
- Their findings suggest that targeting mitochondrial function may help reduce disease severity, but will not prevent ALS from occurring.
Importance: Idiopathic multifocal choroiditis (MFC) is poorly understood, thereby hindering optimal treatment and monitoring of patients.
Objective: To identify the genes and pathways associated with idiopathic MFC.
Design, Setting, And Participants: This was a case-control genome-wide association study (GWAS) and protein study of blood plasma samples conducted from March 2006 to February 2022.
Article Synopsis
- The text discusses the increasing gene testing for amyotrophic lateral sclerosis (ALS), particularly for sporadic ALS (sALS), highlighting a lack of large studies on genetic variations associated with the disease.
- It describes a research study that analyzed genetic data from over 6,000 sALS patients and over 2,400 controls to characterize genetic variability in 90 ALS-related genes using established criteria for interpretation.
- The findings revealed that while some pathogenic variants were identified, a significant portion of the sALS patients had no detectable genetic clues, indicating the complexity of the genetic landscape of the disease.*