Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study

A large genomewide association study of multiple sclerosis uncovered a number of single-nucleotide polymorphisms that have a strong statistical association with the disease. Of these allelic variants, the three with the strongest association relate to immunologic elements: a gene in the HLA region a...

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Vydáno v:The New England journal of medicine Ročník 357; číslo 9; s. 851 - 862
Hlavní autoři: Hafler, David A, Compston, Alastair, Sawcer, Stephen, Lander, Eric S, Daly, Mark J, De Jager, Philip L, de Bakker, Paul I W, Gabriel, Stacey B, Mirel, Daniel B, Ivinson, Adrian J, Pericak-Vance, Margaret A, Gregory, Simon G, Rioux, John D, McCauley, Jacob L, Haines, Jonathan L, Barcellos, Lisa F, Cree, Bruce, Oksenberg, Jorge R, Hauser, Stephen L
Médium: Journal Article
Jazyk:angličtina
Vydáno: Boston, MA Massachusetts Medical Society 30.08.2007
Témata:
Adolescent
Adult
Aged
Alleles
Biological and medical sciences
Diabetes
Epidemiology
Female
General aspects
Genetic Predisposition to Disease
Genetics
Genome, Human
Genomes
HLA-DR alpha-Chains
HLA-DR Antigens - genetics
Humans
Immune system
Interleukin-2 Receptor alpha Subunit - genetics
Interleukin-7 Receptor alpha Subunit - genetics
Linkage Disequilibrium
Male
Medical sciences
Middle Aged
Multiple sclerosis
Multiple Sclerosis - genetics
Mutation
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Public health. Hygiene
Public health. Hygiene-occupational medicine
Risk Factors
Medicine
Nervous system diseases
Allele
Multiple sclerosis
Central nervous system disease
Risk factor
Genetics
Risk
Identification
Epidemiology
Inflammatory disease
ISSN:0028-4793, 1533-4406, 1533-4406
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Shrnutí:A large genomewide association study of multiple sclerosis uncovered a number of single-nucleotide polymorphisms that have a strong statistical association with the disease. Of these allelic variants, the three with the strongest association relate to immunologic elements: a gene in the HLA region and alleles of IL2RA and IL7RA . Both IL2RA and IL7RA have been implicated in other autoimmune diseases. A large genomewide association study of multiple sclerosis uncovered a number of single-nucleotide polymorphisms that have a strong statistical association with the disease. Multiple sclerosis, the most common neurologic disease affecting young adults, is an inflammatory, presumed autoimmune disorder in which lymphocytes and macrophages infiltrate the central nervous system, 1 – 3 sometimes together with antibodies and complement. 4 , 5 Axonal transection with neuronal loss can be an early event in the disease. 6 Systemically, there is subtle dysregulation of cellular and humoral immune responses with a loss of regulatory T-cell function. 7 Studies of twins and sibling pairs suggest that genetic factors influence susceptibility to multiple sclerosis; the evidence indicates that multiple genes, each exerting only modest effects, probably play a part. 3 , 8 Candidate-gene studies have validated . . .
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ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa073493