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University of Tokyo Uncovers Genetic Links to Moyamoya Disease

2/13/2026

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Summary

Story summary

The University of Tokyo conducted a genetic study on moyamoya disease (MMD) and intracranial atherosclerotic disease (ICAS) involving 122 patients and 458 healthy controls.
The study used Sanger sequencing for validation and included an additional cohort of 216 patients.
Researchers applied case-control and in-case analyses along with logistic regression and other statistical tests to assess genetic variants.
The findings aim to enhance understanding of RNF213-related vasculopathy.

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Story summary

The University of Tokyo conducted a genetic study on moyamoya disease (MMD) and intracranial atherosclerotic disease (ICAS) involving 122 patients and 458 healthy controls.
The study used Sanger sequencing for validation and included an additional cohort of 216 patients.
Researchers applied case-control and in-case analyses along with logistic regression and other statistical tests to assess genetic variants.
The findings aim to enhance understanding of RNF213-related vasculopathy.