Journal
CEPHALALGIA
Volume 42, Issue 9, Pages 888-898Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/03331024221080891
Keywords
CADASIL; single-nucleotide polymorphism; migraine; prevalence
Categories
Funding
- Taiwan Ministry of Science and Technology [MOST 109-2314-B-075 -054, MOST 110-2314-B-075 -041 -MY3, MOST 104-2314-B-010-015-MY2, MOST106-2321-B-010-009, MOST 107-2321-B-010-001, MOST 108-2321-B-010-014 -MY2, 108-2321-B-010 001, MOST 108-2314-B-010-023-MY3, MOST-110-2321-B-010-005]
- Taipei Veterans General Hospital [VGH 108-C-092, VGH 109-C-096, VGH 110-C-111]
- Brain Research Center, National Yang Ming Chiao Tung University from The Featured Areas Research Center Program within the framework of the Higher Education Sprout Project by the Ministry of Education (MOE) in Taiwan
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The NOTCH3 p.R544C variant is not associated with the risk or clinical manifestations of migraine. However, patients with the p.R544C variant are less likely to have pulsatile headaches and more likely to have white matter damage in the external capsule and anterior temporal lobe.
Background The role of the NOTCH3 p.R544C variant, the predominant variant of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in multiple East Asian regions, in migraine is unknown. Methods Migraine patients (n = 2,884) (2,279F/605M, mean age 38.8 +/- 11.7 years), including 324 (11.2%) with migraine with aura, were prospectively enrolled by headache specialists according to the International Classification of Headache Disorders criteria. These patients and 3,502 population controls free of stroke, dementia, and headache were genotyped for NOTCH3 p.R544C by TaqMan genotyping assay or Axiom Genome-Wide TWB 2.0 Array. Clinical manifestations and brain magnetic resonance images were examined and compared between migraine patients with and without NOTCH3 p.R544C. Results Thirty-two migraine patients (1.1%) and 36 controls (1.0%) harbored the p.R544C variant, and the percentages were comparable among migraine patients without and with aura, and controls (1.2%, vs. 0.6% vs. 1.0%, p = 0.625). Overall, migraine patients with and without the p.R544C variant had similar percentages of migraine with aura, headache characteristics, frequencies and disabilities. However, those with p.R544C were less likely to have pulsatile headaches (50.0% vs. 68.2%, p = 0.028), and more likely to have moderate to severe white matter hyperintensities in the external capsule (18.8% vs. 1.2%, p = 0.006) and anterior temporal lobe (12.5% vs. 0%, p = 0.008). Conclusions Our findings suggest that NOTCH3 p.R544C does not increase the risk of migraine with aura, or migraine as a whole, and generally does not alter clinical manifestations of migraine. The role of NOTCH3 variants, as well as potential influences from ethnicity or modifier genes, in migraine needs to be further clarified.
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