Title

IL6 receptor(358)Ala variant and trans-signaling are disease modifiers in amyotrophic lateral sclerosis.

Department

Neurobiology

Document Type

Article

Abstract

OBJECTIVE: To test the hypothesis that patients with amyotrophic lateral sclerosis (ALS) inheriting the common interleukin 6 receptor (IL6R) coding variant (Asp

METHODS: An observational, case-control study of paired serum and CSF of 47 patients with ALS, 46 healthy, and 23 neurologic disease controls from the Northeastern ALS Consortium Biofluid Repository (cohort 1) was performed to determine serum levels of IL6, sIL6R, and soluble glycoprotein 130 and compared across groups and IL6R genotype. Clinical data regarding disease progression from a separate cohort of 35 patients with ALS from the Wake Forest ALS Center (cohort 2) were used to determine change in ALSFRS-R scores by genotype.

RESULTS: Patients with ALS had increased CSF IL6 levels compared with healthy (

CONCLUSIONS: Theses results suggest that for individuals inheriting the IL6R C allele, the cytokine exerts a disease- and location-specific role in ALS. Follow-up, prospective studies are necessary, as this subgroup of patients may be identified as ideally responsive to IL6 receptor-blocking therapies.

Publication Date

11-1-2019

Publication Title

Neurol Neuroimmunol Neuroinflamm

ISSN

2332-7812

Volume

6

Issue

6

First Page

631

Last Page

631

PubMed ID

31611269

Digital Object Identifier (DOI)

10.1212/NXI.0000000000000631

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