A mini-review on genetics and ischemic stroke


  • Permphan Dharmasaroja Department of Anatomy, Faculty of Science, Mahidol University


genetics, stroke, gene, brain


It remains unclear why some patients with cardiovascular risk factors develop stroke, whereas others with similar risk factor profiles remain unaffected. Ischemic stroke can be a manifestation of a number of single-gene disorders, and it is usually part of a multisystem disorder. Previous studies strongly support a genetic predisposition to stroke, and genetic association studies have shown that genetic risk factors appear to predispose to specific stroke subtypes. However, identification of individual causative mutations remains handicapped due to limited number of currently available approaches.


Amarenco P, Bogousslavsky J, Caplan LR, et al. Classification of stroke subtypes. Cerebrovasc Dis 2009; 27:493-501.

Lanfranconi S, Markus HS: Stroke subtyping for genetic association studies? A comparison of the CCS and TOAST classifications. Int J Stroke 2013;8(8):626-631.

Biswas AK, Tiwari R, Ranjan A, et al. Prothrombotic polymorphisms, mutations, and their association with pediatric non-cardioembolic stroke in Asian-Indian
patients. Ann Hematol 2009;88(5):473-478.

Shi C, Kang X, Wang Y, et al. The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in young Chinese population with
ischemic stroke. Clin Chim Acta 2008;396(1-2):7-9.

Rao R, Tah V, Casas JP, et al. Sharma, Ischaemic stroke subtypes and their genetic basis: a comprehensive meta-analysis of small and large vessel stroke. Eur
Neurol 2009;61(2):76-86.

Hassan A, Markus HS. Genetics and ischaemic stroke. Brain 2000;23:1784–1812.

Dichgans M. Genetics of ischaemic stroke. Lancet Neurol 2007;6:149–161.

Joutel A, Corpechot C, Ducros A, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature

Adib-Samii P, Brice G, Martin RJ, et al. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke 2010;41:630–634.

Dichgans M, Markus HS. Genetic association studies in stroke: methodological issues and proposed standard criteria. Stroke 2005;36:2027–2031.

Markus HS. Stroke genetics: prospects for personalized medicine. BMC Med 2012;10:113.




How to Cite

Dharmasaroja P. A mini-review on genetics and ischemic stroke. J Thai Stroke Soc [Internet]. 2019 Feb. 19 [cited 2024 Jun. 20];13(1-2):20-4. Available from: https://he01.tci-thaijo.org/index.php/jtss/article/view/173159