The gene encoding transforming growth factor β1 confers risk of ischemic stroke and vascular dementia

Background and Purpose-Transforming growth factor-beta 1 (TGF-beta 1) is an anti-inflammatory cytokine that plays an important role in cerebrovascular pathophysiology with protective activity against ischemia-induced neuronal death. We investigated the association of the polymorphism in TGFBI with ischemic stroke and vascular dementia. Methods-Three sequence variants in and around promoter and exons of TGFBI gene were identified in 30 Koreans. Pro10Leu was selected for association study, and then control subjects (n=207) and patients with ischemic stroke (n=271) and vascular dementia (n=207) were screened. Results-Subjects carrying Leu/Leu were susceptible to both ischemic stroke (odds ratio [OR]=1.63; P < 0.05) and vascular dementia (OR= 1.88; P < 0.01). Analyses with stroke subtypes showed a strong association with small vessel occlusion (SVO, n=110; OR=2.07; P < 0.01). Further analysis of SVO data partitioned by gender revealed the female-specific association with Pro10Leu (OR=2.70; P < 0.05). Conclusions-The Pro10Leu of TGFBI might be a risk factor of ischemic stroke and vascular dementia, especially for SVO in females.