ASSOCIATION BETWEEN THE NOTCH3 p.R544C GENE POLYMORPHISM AND ISCHEMIC STROKE AMONG PATIENTS TREATED AT THAI NGUYEN NATIONAL HOSPITAL

Thị Phương Quỳnh Nguyễn1, Thị Thu Hương Bùi1, Tiến Dũng Nguyễn1, Cẩm Tú Hồ2, Minh Trọng Lò3, Thị Thuỳ Phạm1, Văn Hoàng4,
1 Trường Đại học Y Dược – ĐH Thái Nguyên
2 Trường Đại học Y Hà Nội
3 Bệnh viện Trung ương Thái Nguyên
4 Bệnh viện Tim Hà Nội

Main Article Content

Abstract

Objective: This study aimed to analyze the association between the NOTCH3 p.R544C gene polymorphism and ischemic stroke among patients treated at Thai Nguyen national hospital.

Methods: A case–control study was conducted involving patients diagnosed with ischemic stroke (treated at the Department of Neurology) and a control group without ischemic stroke (recruited from the Outpatient Department) at Thai Nguyen National Hospital.

Results: The NOTCH3 p.R544C polymorphic variants were observed at a remarkably high frequency in the study population, occurring in 84.7% of the patient group and 40.7% of the control group. The CT/TT genotypes, heterozygous CT variant, and homozygous TT variant of NOTCH3 p.R544C were associated with a 8.06-fold, 7.8-fold, and 34.3-fold increased risk of ischemic stroke, respectively, compared with the wild-type CC genotype. Individuals carrying the T allele had a 3.04-fold higher risk of ischemic stroke compared with those carrying the C allele.

Conclusion: The findings of this study demonstrate a statistically significant association between the NOTCH3 p.R544C polymorphism and the risk of ischemic stroke.

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References

1. Duanping Liao, Richard Myers, & Steven Hunt. Familial History of Stroke and Stroke Risk. Stroke 28, 1–10 (1997).
2. Nguyễn Văn Thông, Mai Duy Tôn, & Nguyễn Huy Thắng. Hướng dẫn chẩn đoán và điều trị đột quỵ não. Bộ Y tế (2024).
3. Campbell, B. C. V. et al. Ischaemic stroke. Nat Rev Dis Primers 5, 70 (2019).
4. Campbell, B. C. V. et al. Ischaemic stroke. Nat Rev Dis Primers 5, 70 (2019).
5. Hack, R. J. et al. Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction. Brain 146, 2913–2927 (2023).
6. Lee, Y.-C., Chung, C.-P., Chang, M.-H., Wang, S.-J. & Liao, Y.-C. NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population. Neurology 94, (2020).
7. Boston, G., Jobson, D., Mizuno, T., Ihara, M. & Kalaria, R. N. Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review. Cerebral Circulation - Cognition and Behavior 6, 100227 (2024).