Objectives: Cerebral stroke is a common multifactorial trait that does not follow Mendelian pattern of inheritance. The phenomena of gene-gene or gene-environment interactions may be responsible for the multifactorial traits. Any mutation may be associated with silencing implicated in other disorders. This case-control study explored the association between
Notch3 polymorphism and stroke in Iranian-Azeri population.

Materials and Methods: In this case-control study, C381T polymorphism in Notch3 gene was evaluated among 65 patients with ischemic stroke and 65 individuals without any stroke as control group. The samples were recruited from 5 clinical centers during 2014-2015. PCR-SSCP and sequencing methods were used to obtain the data.

Results: In this study, the frequencies of C and T alleles in the patient group were 85% and 15%, and in the control group were 94% and 6%, respectively. The frequencies of CC, CT and TT genotypes were 72%, 26% and 2% in the patient group, and 88%, 12% and 0% in the control group, respectively. Both control and patient groups had signifcant difference considering their both allele and genotype frequencies. The individuals with C381T polymorphism in Notch3 gene were in a signifcantly higher risk of thrombotic stroke (P = 0.02, CI: 0.128-0.256: 95%, odds ratio [OR]: 2.72).

Conclusions: Our results showed that combination of T allele of this gene conferred higher risk for cerebral stroke. The interaction of gene mutation with post-translation modifcation may serve as a novel feld for stroke research.