It afflicts young adults. Multiple Sclerosis causes inflammation in random areas of the brain, spinal cord and optic nerves. The inflammation destroys the myelin sheath that covers nerve cell fibers.
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Polman Find articles by Chris H. Oksenberg Find articles by Jorge R. Published by Oxford University Press. For Permissions, please email: Abstract Multiple sclerosis MSa chronic disorder of the central nervous system and common cause of neurological disability in young adults, is characterized by moderate but complex risk heritability.
After stringent quality control data filtering, we compared allele frequencies for SNPs in cases and controls and assessed genotypic influences on susceptibility, age of onset, disease severity, as well as brain lesion load and normalized brain volume from magnetic resonance imaging exams.
A multi-analytical strategy identified susceptibility SNPs exceeding established thresholds of significance, including 65 within the MHC locus in chromosome 6p Independent replication confirms a role for GPC5, a heparan sulfate proteoglycan, in disease risk.
Gene ontology-based analysis shows a functional dichotomy between genes involved in the susceptibility pathway and those affecting the clinical phenotype. It is a relatively common disease, affecting approximately 1—2 per individuals; ancestry, latitude, sex, and age influence risk and incidence 23.
Etiologically, MS is characterized by a polygenic heritable component that involves multifaceted interactions with environmental factors 4.
Clinical manifestations of MS are diverse and vary from benign to a rapidly evolving and ultimately incapacitating disease. Concordance in families for some early and late clinical features suggests that in addition to susceptibility, genomic variants influence disease severity or other aspects of the phenotype 16 — It has been difficult to discern, however, whether phenotypic diversity reflects true etiological heterogeneity 20modifying roles of specific genes 19or some combination of the two.
Unfortunately, published reports proposing specific genetic influences on the natural history of MS relied almost exclusively on small series of cases, retrospective clinical assessment and, in some cases, non-validated phenotypic endpoints.
Furthermore, the confounding effects of drug treatment and population stratification have not been generally considered. It is also important to recognize that the aggregate contribution of individual germ line variants to the disease course may be quite modest.
This is highlighted by observations that the clinical expression of MS can be different between monozygotic twin siblings. Nevertheless, the demonstration of even a modest genetic effect of a known gene on the course of MS could help elucidate fundamental mechanisms of disease expression and yield a major therapeutic opportunity.
After stringent quality control, we compared allele frequencies for SNPs in cases and controls and assessed genotypic influences on susceptibility, age of onset, disease severity, brain lesion load and normalized brain volume.
Following quality control filtering of SNPs and samples, the final dataset included MS cases and controls of European ancestry. Approximately, half of these were enrolled by the US site, with one-quarter from each of the two European sites.
To assess bias introduced by population stratification, the entire dataset and each case—control group were scanned for the presence on non-random distribution of alleles using STRUCTURE v.
This analysis resulted in the exclusion of 36 individuals 15 cases and 21 controls enrolled at the US site and three cases from the EU sites. In any case, origin of the sample was entered into the logistic regression model as a covariate to minimize the effects of the pooled variance inflation.
For all analyses, samples were pooled into a single dataset to increase statistical power Summary of demographic and clinical characteristics of study participants at the three sites at time of analysis Variable.An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted.
Many investigators believe MS to be an autoimmune disease - one in which the body, through its immune system, launches a defensive attack against its own tissues.
Multiple sclerosis (MS) is a chronic disease of the central nervous system. It is thought to be an autoimmune disorder. It is an unpredictable condition that can be relatively benign, disabling. Multiple sclerosis (MS) is a chronic, often disabling, neurologic disease, common among adults worldwide and in the US.1 It has a heterogeneous geographical prevalence with higher rates reported in Central and Northern Europe, North America, and Australia than for Asia, Africa, and South America.2 There are believed to be over , persons with MS in the US and million worldwide.
Multiple sclerosis (MS) is a chronic, disabling disease that affects 2 million people worldwide and is typically diagnosed between ages 20 and Common symptoms that include upper and lower extremity.
Multiple sclerosis (MS) is a chronic disease of the central nervous system. It is thought to be an autoimmune disorder. It is an unpredictable condition that can be relatively benign, disabling.
7 Understanding Multiple Sclerosis What Is MS? MS is a chronic, often disabling disease that affects the central nervous system (CNS). The CNS consists of the brain, spinal cord.