To investigate the MRI characteristics in a large cohort of multiple sclerosis (MS) patients with and without a family history of MS.
Enrolled in this prospective study were 758 consecutive MS patients (mean age 46.2 ± 10.1 years, disease duration 13.6 ± 9.2 years and EDSS 3.4 ± 2.1), of whom 477 had relapsing-remitting, 222 secondary-progressive, and 30 primary-progressive disease courses and 29 had clinically isolated syndrome. One hundred and ninety-six patients (25.9%) had a positive family history of MS. Patients were assessed using measurements of lesions, brain atrophy, magnetization transfer ratio (MTR) and diffusion-weighted imaging.
The familial MS group had greater T1-lesion volume (p=0.009) and a trend for lower MTR of T1-lesion volume (p=0.047) than the sporadic MS group. No clinical differences were found between familial versus sporadic group, or by a degree of affected relative subgroups.
While familial MS was associated with more severe T1-lesion volume and its MTR characteristics, there were no clinical status differences between familial and sporadic MS patients. Therefore, a better understanding of the genetic and/or epigenetic influences causing these differences can advance the understanding and management of MS.
[Show abstract][Hide abstract] ABSTRACT: The hypothesis that adequate vitamin D nutrition can contribute to the prevention of multiple sclerosis (MS) was originally proposed to explain the geographical distribution of MS, but only recently has the relation between various measures of vitamin D (eg, sun exposure, dietary sources, and serum concentrations of 25-hydroxyvitamin D) and risk of developing MS been rigorously investigated. Overall, the results of these studies support a protective effect of vitamin D, but there are uncertainties and many unanswered questions, including how vitamin D exerts a protective effect, how genetic variations modify the effect, and whether vitamin D can influence the course of MS progression.
The Lancet Neurology 06/2010; 9(6):599-612. DOI:10.1016/S1474-4422(10)70086-7 · 21.90 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Major advances in the genetics of multiple sclerosis (MS) have been reported in 2011. These include studies in gene mapping, functional characterization of previously associated genes, and the relationship between genes and the environment. While particularly true for gene discovery, each of these efforts requires substantial statistics and computational resources for adequate analysis. This review describes the major advances in the genetics of MS with a slight emphasis on data handling and analysis.
Articles discussed include a new genome-wide association study (GWAS) with almost 10 000 cases (a collaboration between the Wellcome Trust and the international MS Genetics Consortium) that identified new susceptibility loci, taking the total number of risk alleles to more than 50. An article describing the use of next-generation sequencing to identify a rare mutation in CYP27B1 in a MS family is also discussed. Moreover, a summary of recent reports describing functional studies of MS-associated genes as well as the latest research on the interactions between genes and the environment is provided.
This review provides a concise summary of the most relevant studies in the genetics of MS in the past year. We raise awareness about analytical resources to successfully analyze the massive datasets characteristic of today's genetic studies.
Current opinion in neurology 04/2012; 25(3):239-45. DOI:10.1097/WCO.0b013e3283533a93 · 5.31 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Multiple sclerosis (MS), a chronic disorder of the central nervous system and common cause of neurological disability in young adults, is characterized by moderate but complex risk heritability. Here we report the results of a genome-wide association study performed in a 1000 prospective case series of well-characterized individuals with MS and group-matched controls using the Sentrix HumanHap550 BeadChip platform from Illumina. After stringent quality control data filtering, we compared allele frequencies for 551 642 SNPs in 978 cases and 883 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 242 susceptibility SNPs exceeding established thresholds of significance, including 65 within the MHC locus in chromosome 6p21.3. 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.
Human Molecular Genetics 12/2008; 18(4):767-78. DOI:10.1093/hmg/ddn388 · 6.39 Impact Factor
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