Abstract
Loss-of-function mutations of DAP12 and TREM2 cause a recessively inherited disease PLOSL, manifesting in brain white matter. The genes of the DAP12-TREM2 signaling receptor are located on 19q13.12 and 6p21.1, to which linkage has been observed also in families affected by another immune-mediated demyelinating disease, MS. We have tested if allelic variation in DAP12 or TREM2 predisposes also to MS by monitoring carrier frequency of the Finnish PLOSL mutation in Finnish MS cases and by studying DAP12 and TREM2 in MS by linkage and association. To conclude, the DAP12-TREM2 complex unlikely has a role in genetic susceptibility of MS.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics
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Brain Diseases / complications
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Brain Diseases / etiology*
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Brain Diseases / genetics
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Chromosomal Proteins, Non-Histone / genetics
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Chromosome Mapping / methods
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DNA-Directed DNA Polymerase / genetics
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Demyelinating Diseases / complications
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Demyelinating Diseases / etiology*
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Demyelinating Diseases / genetics
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Finland
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Gene Frequency
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Genetic Predisposition to Disease*
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Humans
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Linkage Disequilibrium
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Membrane Glycoproteins / genetics
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Membrane Proteins / genetics
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Multiple Sclerosis / etiology
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Multiple Sclerosis / metabolism
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Mutation
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Polymorphism, Single Nucleotide / genetics
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Receptors, Immunologic / genetics
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Sequence Analysis
Substances
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Adaptor Proteins, Signal Transducing
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Chromosomal Proteins, Non-Histone
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Membrane Glycoproteins
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Membrane Proteins
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Receptors, Immunologic
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TREM2 protein, human
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TYROBP protein, human
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DNA-Directed DNA Polymerase
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TENT4A protein, human