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Objective  This study aimed to determine the frequency of pathogenic  NOTCH3  variants among Koreans.    Methods  In this cross-sectional study, we queried for pathogenic  NOTCH3  variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic  NOTCH3  variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys) for 1,000 individuals on Jeju Island, where the largest number of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported in Korea.    Results  The pathogenic  NOTCH3  variant (p.Arg544Cys) was found in 0.12% of sequences in the KRGDB, and 3 pathogenic variants (p.Arg75Pro, p.Arg182Cys, and p.Arg544Cys) were present in 0.44% of the Korea1K database. Of the 1,000 individuals on Jeju Island, we found 2 cysteine-altering  NOTCH3  variants (p.Arg544Cys variant in 9 and p.Arg578Cys in 1 individual) in 1.00% of the participants (95% confidence interval: 0.48%–1.83%). The presence of cysteine-altering  NOTCH3  variants was significantly associated with a history of stroke ( p  &lt; 0.001).    Discussion  Pathogenic  NOTCH3  variants are frequently found in the general Korean population. Such a high prevalence of pathogenic variants could threaten the brain health of tens of thousands to hundreds of thousands of older adults in Korea.

Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population