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No evidence for shared etiology in two demyelinative disorders, MS and PLOSL.

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.

journal_name

J Neuroimmunol

journal_title

Journal of neuroimmunology

authors

Sulonen AM,Kallio SP,Ellonen P,Suvela M,Elovaara I,Koivisto K,Pirttilä T,Reunanen M,Tienari PJ,Palotie A,Peltonen L,Saarela J

doi

10.1016/j.jneuroim.2008.10.005

subject

Has Abstract

pub_date

2009-01-03 00:00:00

pages

86-90

issue

1-2

eissn

0165-5728

issn

1872-8421

pii

S0165-5728(08)00446-3

journal_volume

206

pub_type

杂志文章

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