AKAGAWA HIROYUKI
   Department   Research Institutes and Facilities, Research Institutes and Facilities
   Position   Associate Professor
Article types Original article
Language English
Peer review Peer reviewed
Title Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease.
Journal Formal name:Neurologia medico-chirurgica
Abbreviation:Neurol Med Chir (Tokyo)
ISSN code:13498029/04708105
Domestic / ForeginForegin
Volume, Issue, Page 64(1),pp.43-49
Author and coauthor Thamamongood Thiparpa, Hara Shoko, Akagawa Hiroyuki, Inaji Motoki, Tanaka Yoji, Nariai Tadashi, Maehara Taketoshi
Publication date 2024/01
Summary Recently, thyroid autoantibodies were found to be associated with moyamoya disease (MMD). The ring finger protein 213 (RNF213) p.R4810K variant represents the most important susceptibility genotype of this disease, but its relationship with thyroid autoantibodies remains to be elucidated. Thus, in this study, we aimed to evaluate the clinical relevance of thyroid autoantibodies in each RNF213 genotype in patients with MMD. Included in this study were patients with MMD without a thyroid disease history and in euthyroid status; they were then classified into the mutated or nonmutated based on the RNF213 p.R4810K genotype and positive or negative based on thyroid autoantibody (thyroperoxidase and thyroglobulin) levels. Clinical data of each group were thereafter evaluated. Among the 209 patients, the mutated RNF213 p.R4810K variant and positive thyroid autoantibodies were detected in 155 and 41 patients, respectively. Positive thyroid autoantibodies were found to be more common in the nonmutated patients than in the mutated patients (31.5% vs. 15.5%; P = 0.011). In the mutated patients, as compared to autoantibody-negative patients, autoantibody-positive patients were determined to be more likely to have advanced disease with posterior cerebral artery involvement (54.2% vs. 29.0%; P = 0.017), white matter infarction (58.3% vs. 37.6%; P = 0.046), and a higher modified Rankin Scale at last visit (16.7% vs. 3.1%; P = 0.021). These results suggest that thyroid autoantibodies can act as an immunity inducer in patients with MMD lacking the susceptibility gene RNF213 p.R4810K variant. Moreover, the simultaneous presence of thyroid autoantibodies and the variant seems to aggravate the disease, which indicates synergy between thyroid autoantibodies and the variant.
DOI 10.2176/jns-nmc.2023-0169
PMID 38057092