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Whole exome sequencing in familial Multiple Sclerosis

ABSTRACT: The purpose of the study is to determine whether variants of genes are associated with greater risk of Multiple Sclerosis (MS). We used whole-exome sequencing in 138 individuals from 23 families including at least 2 members with MS. We compare patients with MS, patients with other autoimmune diseases (AID), and unaffected individuals.

PROVIDER: EGAS00001004204 | EGA |

REPOSITORIES: EGA

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Project description:Childhood adversity has an impact on multiple sclerosis (MS) onset, clinical severity and progression, but our understanding of potentially related biological pathways is limited. This study evaluated 60 individuals with either pediatric-onset MS (POMS) or adult-onset MS (AOMS) and tested the association between personal history of childhood adversity and clinical MS outcomes, current indicators of allostatic load, and epigenetic signatures. We conceptualized childhood adversity for each participant as a composite of individual, family, and socioeconomic measures captured, respectively, by the Adverse Childhood Experiences questionnaire, level of parental education, and estimated household income during childhood. Our primary goal was to test the association between a history of childhood adversity and MS symptom severity, degree of neurologic impairment, biomarkers of allostatic load, and epigenetic changes. We found that participants with a history of childhood adversity were more likely to have greater MS symptom burden and greater disability but did not differ in allostatic load. Among all patients, epigenetic signatures did not differ by history of childhood adversity. However, when we further analyzed by MS subtype (POMS vs. AOMS), we found that the POMS participants with childhood adversity had epigenetic signatures characterized by increased methylated regions. In contrast, AOMS individuals with childhood adversity showed decreased methylation compared to individuals without childhood adversity. None of the observed clinical and biologic differences were explained by differences in access to or timing of the onset of MS therapy or by the interval between symptom onset and diagnosis . Our findings suggest that individuals with MS who experienced childhood adversity may have an increased MS symptom burden and greater neurologic deficits. A history of childhood adversity was associated with DNA methylation patterns specific to POMS vs. AOMS. These findings suggest that the biologic and clinical consequences of childhood adversity may have varying effects throughout the MS lifespan.

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Whole exome sequencing in familial Multiple Sclerosis

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