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View article: Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis
Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis Open
Our study revealed a previously unknown association between an intronic variant in SAMD5 with intrathecal IgG synthesis and identified a potential causal variant within the IGHC locus. It further provides evidence for possible effects of k…
View article: A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis
A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis Open
Recent sero-epidemiological studies have strengthened the hypothesis that Epstein–Barr virus (EBV) may be a causal factor in multiple sclerosis (MS). Given the complexity of the EBV–host interaction, various mechanisms may be responsible f…
View article: A targeted sequencing extension for transcript genotyping in single-cell transcriptomics
A targeted sequencing extension for transcript genotyping in single-cell transcriptomics Open
As no existing methods within the single-cell RNA sequencing repertoire combine genotyping of specific genomic loci with high throughput, we evaluated a straightforward, targeted sequencing approach as an extension to high-throughput dropl…
Correction: Schroyen et al. Neuroinflammation and Its Association with Cognition, Neuronal Markers and Peripheral Inflammation after Chemotherapy for Breast Cancer. Cancers 2021, 13, 4198 Open
In the original publication [...]
View article: Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis
Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis Open
Background Somatic variants are variations in an individual’s genome acquired after the zygotic stadium and result from mitotic errors or not (fully) repaired DNA damage. Objectives To investigate whether somatic mosaicism in T lymphocyte …
View article: Effects of Vitamin D and Body Mass Index on Disease Risk and Relapse Hazard in Multiple Sclerosis
Effects of Vitamin D and Body Mass Index on Disease Risk and Relapse Hazard in Multiple Sclerosis Open
This study supports causal effects of genetically predicted serum 25OHD concentrations and BMI on risk of MS. In contrast, serum 25OHD but not BMI is significantly associated with relapse hazard after onset. These findings might offer clin…
Natural Killer Cells in Multiple Sclerosis: Entering the Stage Open
Studies investigating the immunopathology of multiple sclerosis (MS) have largely focused on adaptive T and B lymphocytes. However, in recent years there has been an increased interest in the contribution of innate immune cells, amongst wh…
View article: Body Mass Index, Interleukin-6 Signaling and Multiple Sclerosis: A Mendelian Randomization Study
Body Mass Index, Interleukin-6 Signaling and Multiple Sclerosis: A Mendelian Randomization Study Open
Objectives We explored whether genetically predicted increased body mass index (BMI) modulates multiple sclerosis (MS) risk through interleukin-6 (IL-6) signaling. Methods We performed a two-sample Mendelian randomization (MR) study using …
Neuroinflammation and Its Association with Cognition, Neuronal Markers and Peripheral Inflammation after Chemotherapy for Breast Cancer Open
To uncover mechanisms underlying chemotherapy-induced cognitive impairment in breast cancer, we studied new biomarkers of neuroinflammation and neuronal survival. This cohort study included 74 women (47 ± 10 years) from 22 October 2017 unt…
View article: Treatment-Induced BAFF Expression and B Cell Biology in Multiple Sclerosis
Treatment-Induced BAFF Expression and B Cell Biology in Multiple Sclerosis Open
Although fingolimod and interferon-β are two mechanistically different multiple sclerosis (MS) treatments, they both induce B cell activating factor (BAFF) and shift the B cell pool towards a regulatory phenotype. However, whether there is…
View article: Genetic Variation in <scp><i>WNT9B</i></scp> Increases Relapse Hazard in Multiple Sclerosis
Genetic Variation in <span><i>WNT9B</i></span> Increases Relapse Hazard in Multiple Sclerosis Open
Objective Many multiple sclerosis (MS) genetic susceptibility variants have been identified, but understanding disease heterogeneity remains a key challenge. Relapses are a core feature of MS and a common primary outcome of clinical trials…
Smoking and multiple sclerosis risk: a Mendelian randomization study Open
Background Striking changes in the demographic pattern of multiple sclerosis (MS) strongly indicate an influence of modifiable exposures, which lend themselves well to intervention. It is important to pinpoint which of the many environment…
View article: CHIT1 at Diagnosis Reflects Long‐Term Multiple Sclerosis Disease Activity
CHIT1 at Diagnosis Reflects Long‐Term Multiple Sclerosis Disease Activity Open
Objective Evidence for a role of microglia in the pathogenesis of multiple sclerosis (MS) is growing. We investigated association of microglial markers at time of diagnostic lumbar puncture (LP) with different aspects of disease activity (…
View article: Erratum: Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (Cell (2019) 178(1) (262), (S0092867419306798), (10.1016/j.cell.2019.06.016))
Erratum: Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk (Cell (2019) 178(1) (262), (S0092867419306798), (10.1016/j.cell.2019.06.016)) Open
(Cell 175, 1679–1687.e1–e7; November 29, 2018) It has come to our attention that in preparing the final version of this article, the authors inadvertently misspelled the last name of author Charlotte E. Teunissen as “Charlotte E. Theunisse…
View article: Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility
Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility Open
Genetic roots of multiple sclerosis The genetics underlying who develops multiple sclerosis (MS) have been difficult to work out. Examining more than 47,000 cases and 68,000 controls with multiple genome-wide association studies, the Inter…
View article: Leveraging human genetics to inform intervention strategies for multiple sclerosis
Leveraging human genetics to inform intervention strategies for multiple sclerosis Open
status: Published online
View article: A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease
A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease Open
The role of somatic variants in diseases beyond cancer is increasingly being recognized, with potential roles in autoinflammatory and autoimmune diseases. However, as mutation rates and allele fractions are lower, studies in these diseases…