scholarly journals Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire)

2021 ◽  
Vol 7 (4) ◽  
pp. 205521732110590
Author(s):  
Silvy Pilotto ◽  
Jessica Gencarelli ◽  
Stefania Bova ◽  
Leonardo Gerosa ◽  
Damiano Baroncini ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Pediatric Population ◽  
Environmental Exposures ◽  
Case Control ◽  
Italian Population ◽  
Case Control Studies ◽  
Environment Exposure ◽  
Perceived Relevance ◽  
Pediatric Onset

Background The etiology of pediatric-onset multiple sclerosis is unknown although putative genetic and environmental factors appear to be involved. Among children multiple sclerosis onset occurs closer to the susceptibility window thank in adults and the exposure to etiological environmental factors is more informative. An Italian multicentre case-control study (the PEDiatric Italian Genetic and enviRonment ExposurE, PEDIGREE study) was designed to investigate environmental exposures in pediatric-onset multiple sclerosis and their interaction with genetics. Objectives To collect evidence on exposures to environmental risk factors in pediatric-onset multiple sclerosis, a questionnaire was developed for the Italian population (PEDIGREE Questionnaire) and is presented. Methods PEDIGREE Questionnaire develops from an existing tool used in case-control studies on pediatric-onset multiple sclerosis in US Americans, and was translated, adapted and tested for the contents perceived relevance, acceptability, feasibility and reliability in a population of Italian pediatric subjects and their parents recruited from clinics and general population. Results PEDIGREE Questionnaire contents were overall deemed relevant by the study population, acceptable for 100% participants and feasible for at least 98%. PEDIGREE Questionnaire degree of reliability ranged 56% to 72%. Conclusion PEDIGREE Questionnaire proves to be an efficient tool to assess environmental exposures in the Italian pediatric population. We encourage the dissemination of population-specific questionnaires and shared methodology to optimize efforts in MS etiological research.

scholarly journals DRB1–environment interactions in multiple sclerosis etiology: results from two Swedish case–control studies

2021 ◽  
pp. jnnp-2020-325676
Author(s):  
Anna Karin Hedström ◽  
Jan Hillert ◽  
Nicole Brenner ◽  
Julia Butt ◽  
Tim Waterboer ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Environmental Factor ◽  
Population Based ◽  
Case Control ◽  
Case Control Studies ◽  
Adolescent Overweight ◽  
Log Odds ◽  
Antibody Levels ◽  
Additive Scale

ObjectiveWe aimed to investigate the influence of environmental risk factors for multiple sclerosis (MS) in different genetic contexts, and study if interactions between environmental factors and human leucocyte antigen (HLA) genes differ in magnitude according to heterozygocity and homozygocity for HLA-DRB1*15:01.MethodsUsing population-based case–control studies (6985 cases, 6569 controls), subjects with different genotypes and smoking, EBNA-1 status and adolescent Body Mass status, were compared regarding MS risk, by calculating OR with 95% CI employing logistic regression. The interaction between different genotypes and each environmental factor was evaluated on the additive scale.ResultsThe effect of each DRB1*15:01 allele on MS risk was additive on the log-odds scale for each additional allele. Interaction between DRB1*15:01 and each assessed environmental factor was of similar magnitude regardless of the number of DRB1*15:01 alleles, although ORs were affected. When any of the environmental factors were present in DRB1*15:01 carriers without the protective A*02:01 allele, a three-way interaction occurred and rendered high ORs, especially among DRB1*15:01 homozygotes (OR 20.0, 95% CI 13.1 to 30.5 among smokers, OR 21.9, 95% CI 15.0 to 31.8 among those with elevated EBNA-1 antibody levels, and OR 44.3, 95% CI 13.5 to 145 among those who reported adolescent overweight/obesity).ConclusionsThe strikingly increased MS risk among DRB*15:01 homozygotes exposed to any of the environmental factors is a further argument in favour of these factors acting on immune-related mechanisms. The data further reinforce the importance of preventive measures, in particular for those with a genetic susceptibility to MS.

scholarly journals Cerebrospinal fluid neurofilament light chain in multiple sclerosis and its subtypes: a meta-analysis of case–control studies

2019 ◽  
Vol 90 (9) ◽  
pp. 1059-1067 ◽  
Author(s):  
Sarah-Jane Martin ◽  
Sarah McGlasson ◽  
David Hunt ◽  
James Overell
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Light Chain ◽  
Meta Analysis ◽  
Grey Literature ◽  
Case Control ◽  
Disease Stage ◽  
Case Control Studies ◽  
Neurofilament Light Chain ◽  
Neurofilament Light

ObjectiveNeurofilament is a biomarker of axonal injury proposed as a useful adjunct in the monitoring of patients with multiple sclerosis (MS). We conducted a systematic review and meta-analysis of case–control studies that have measured neurofilament light chain (NfL) levels in cerebrospinal fluid (CSF) of people with MS (pwMS), in order to determine whether, and to what degree, CSF NfL levels differentiate MS from controls, or the subtypes or stages of MS from each other.MethodsGuidelines on Preferred Reporting Items for Systematic Reviews and Meta-Analyses were followed. Electronic databases were searched for published and ‘grey’ literature, with 151 hits. Of 51 full articles screened, 20 were included in qualitative analysis, and 14 in meta-analysis.ResultsCSF NfL was higher in 746 pwMS than 435 (healthy and disease) controls, with a moderate effect size of 0.61 (p < 0.00001). Mean CSF NfL levels were significantly higher in 176 pwMS with relapsing disease than 92 with progressive disease (2124.8 ng/L, SD 3348.9 vs 1121.4 ng/L, SD 947.7, p = 0.0108). CSF NfL in 138 pwMS in relapse (irrespective of MS subtype) was double that seen in 268 pwMS in remission (3080.6 ng/L, SD 4715.9 vs 1541.7 ng/L, SD 2406.5, p < 0.0001).ConclusionsCSF NfL correlates with MS activity throughout the course of MS, reflecting the axonal damage in pwMS. Relapse is more strongly associated with elevated CSF NfL levels than the development of progression, and NfL may be most useful as a marker of disease ‘activity’ rather than as a marker of disability or disease stage.

scholarly journals Novel Insights on Genetic and Environmental Factors in Parkinson's Disease from a regional Swedish Case-Control Cohort

2021 ◽  
Author(s):  
Kajsa Brolin ◽  
Sara Bandres Ciga ◽  
Cornelis Blauwendraat ◽  
Hakan Widner ◽  
Per Odin ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Environmental Factors ◽  
Environmental Exposures ◽  
Case Control ◽  
Risk Haplotype ◽  
Control Cohort ◽  
Disease Etiology ◽  
Continental Scale ◽  
Genetic And Environmental Factors

BACKGROUND: Risk factors for Parkinson's disease (PD) can be more or less relevant to a population due to population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential to study PD at a local, regional, and continental scale in order to increase the knowledge on disease etiology. OBJECTIVE: We aimed to investigate the contribution of genetic and environmental factors to PD in a new Swedish case-control cohort. METHODS: PD patients (n=929) and matched population-based controls (n=935) from the southernmost county in Sweden were included in the cohort. Information on environmental exposures was obtained using questionnaires at inclusion. Genetic analyses included a genome-wide association study (GWAS), haplotype assessment, and a risk profile analysis using cumulative genetic risk scores. RESULTS: The cohort is a representative PD case-control cohort (64% men, mean age at diagnosis = 67 years, median Hoehn and Yahr score = 2.0), in which previously reported associations between PD and environmental factors, such as tobacco, could be confirmed. We describe the first GWAS of PD solely composed of PD patients from Sweden, and confirm associations to well-established risk alleles in SNCA. In addition, we identified a potential novel, population-specific PD risk variant in the PLPP4 locus (rs12771445) along with a risk haplotype in the region. CONCLUSIONS: This work provides an in-depth description of a new PD case-control cohort from southern Sweden in which we identified a potential novel PD risk locus, PLPP4. Replication studies are needed to determine whether the PLPP4 locus is associated with PD in Sweden, and on a global scale.

scholarly journals Viremia preceding multiple sclerosis: Two nested case-control studies

Virology ◽  
2018 ◽  
Vol 520 ◽  
pp. 21-29
Author(s):  
Emilie Hultin ◽  
Laila Sara Arroyo Mühr ◽  
Zurab Bzhalava ◽  
Maria Hortlund ◽  
Camilla Lagheden ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Case Control ◽  
Case Control Studies ◽  
Nested Case Control

Case-Control Studies of Multiple Sclerosis

1982 ◽  
Vol 1 (2) ◽  
pp. 115-123 ◽  
Author(s):  
Roger Detels
Keyword(s):  
Multiple Sclerosis ◽  
Case Control ◽  
Case Control Studies

Smoking is a risk factor for multiple sclerosis: a metanalysis

2007 ◽  
Vol 13 (5) ◽  
pp. 610-615 ◽  
Author(s):  
C.H. Hawkes
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Data Collection ◽  
Cigarette Smoking ◽  
Statistical Methods ◽  
Disease Onset ◽  
Case Control ◽  
Case Control Studies ◽  
Indirect Association ◽  
Rate Ratios

Several case control studies have probed a link between cigarette smoking and subsequent multiple sclerosis (MS). Data collection and statistical methods have varied, and frequently, case numbers have been small. Publications relating to MS and smoking are reviewed and combined where comparable methods have been used. Metanalysis of six informative studies show significantly elevated odds or rate ratios, ranging from 1.22 to 1.51, depending on the method of analysis, confirming that the risk of MS is increased for those who smoke prior to disease onset, as measured by commencement of symptoms. A variety of direct causative mechanisms are discussed, but an indirect association through health adverse conduct is favoured. Multiple Sclerosis 2007; 13: 610-615. http://msj.sagepub.com

scholarly journals Sympathetic skin response in multiple sclerosis: a meta-analysis of case-control studies

2017 ◽  
Vol 39 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Nicolò Margaritella ◽  
Laura Mendozzi ◽  
Massimo Garegnani ◽  
Elisabetta Gilardi ◽  
Raffaello Nemni ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Meta Analysis ◽  
Sympathetic Skin Response ◽  
Case Control ◽  
Case Control Studies ◽  
Skin Response
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