scholarly journals Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Cell ◽  
2019 ◽  
Vol 178 (1) ◽  
pp. 262 ◽  
Author(s):  
Mitja Mitrovič ◽  
Nikolaos A. Patsopoulos ◽  
Ashley H. Beecham ◽  
Theresa Dankowski ◽  
An Goris ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Low Frequency ◽  
Multiple Sclerosis Risk

scholarly journals Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Cell ◽  
2018 ◽  
Vol 175 (6) ◽  
pp. 1679-1687.e7 ◽  
Author(s):  
Mitja Mitrovič ◽  
Nikolaos A. Patsopoulos ◽  
Ashley H. Beecham ◽  
Theresa Dankowski ◽  
An Goris ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Low Frequency ◽  
Multiple Sclerosis Risk

scholarly journals NR1H3 p.Arg415Gln Is Not Associated To Multiple Sclerosis Risk

2016 ◽  
Author(s):  
◽  
Chris Cotsapas
Keyword(s):  
Multiple Sclerosis ◽  
Sample Size ◽  
False Positive ◽  
Progressive Disease ◽  
Low Frequency ◽  
Common Variant ◽  
Primary Progressive ◽  
Disease Subtype ◽  
Multiple Sclerosis Risk

AbstractA recent study by Wang et al claims the low-frequency variant NR1H3 p.Arg415Gln is pathological for multiple sclerosis and determines a patient’s likelihood of primary progressive disease. We sought to replicate this finding in the International MS Genetics Consortium (IMSGC) patient collection, which is 13-fold larger than the collection of Wang et al, but we find no evidence that this variant is associated either with MS or disease subtype. Wang et al also report a common variant association in the region, which we show captures the association the IMSGC reported in 2013. Therefore, we conclude that the reported low-frequency association is a false positive, likely generated by insufficient sample size. The claim of NR1H3 mutations describing a Mendelian form of MS - of which no examples exist - can therefore not be substantiated by data.

scholarly journals Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Cell ◽  
2020 ◽  
Vol 180 (2) ◽  
pp. 403
Author(s):  
Mitja Mitrovič ◽  
Nikolaos A. Patsopoulos ◽  
Ashley H. Beecham ◽  
Theresa Dankowski ◽  
An Goris ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Low Frequency ◽  
Multiple Sclerosis Risk

scholarly journals Multiple sclerosis risk gene Mertk is required for microglial activation and subsequent remyelination

Cell Reports ◽  
2021 ◽  
Vol 34 (10) ◽  
pp. 108835
Author(s):  
Kimberle Shen ◽  
Mike Reichelt ◽  
Roxanne V. Kyauk ◽  
Hai Ngu ◽  
Yun-An A. Shen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Microglial Activation ◽  
Risk Gene ◽  
Multiple Sclerosis Risk

The 795CT polymorphism in osteopontin gene is not associated with multiple sclerosis in a Spanish population

2007 ◽  
Vol 13 (2) ◽  
pp. 250-252 ◽  
Author(s):  
A Mas ◽  
A Martínez ◽  
V De Las Heras ◽  
M Bartolomé ◽  
Eg De La Concha ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Low Frequency ◽  
Interleukin 10 ◽  
Interleukin 12 ◽  
Italian Population ◽  
Cytokine Network ◽  
Activated T Cells ◽  
Negative Finding ◽  
The Central Nervous System ◽  
Ms Pathogenesis

Multiple sclerosis (MS) is an inflammatory disease affecting the central nervous system. The dysregulation of the cytokine network is an important component of its pathogenesis. One of the cytokines produced by activated T-cells is osteopontin (OPN). OPN enhances the production of the pro-inflammatory cytokines, interleukin-12 and interferon-gamma, while reducing interleukin-10 levels. Therefore, OPN is considered a pro-inflammatory cytokine, and could play a key role in MS pathogenesis. The OPN gene contains several common polymorphisms, distributed in two main haplotypes, which may modulate its production or activity. A total of 326 MS patients and 484 healthy controls were typed for 795CT OPN polymorphism. In order to perform a familial study, 51 progenitor pairs were also included. No difference was found in the case-control or family study. This negative finding is inconsistent with a previous haplotype study in an Italian population, where the haplotype associated carried the low-frequency allele in position 795. In a Japanese population, a similar study yielded no association with this polymorphism. In conclusion, our data suggest that the 795 polymorphism does not play an etiological role per se and the haplotype structure may differ from one population to another. Multiple Sclerosis 2007; 13: 250–252. http://msj.sagepub.com

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