The gene encoding transforming growth factor beta 1 confers risk of ischemic stroke and vascular dementia.
OBJECTIVE
Transforming growth factor-beta1 (TGF-beta1) 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 TGFB1 with ischemic stroke and vascular dementia.


METHODS
Three sequence variants in and around promoter and exons of TGFB1 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 TGFB1 might be a risk factor of ischemic stroke and vascular dementia, especially for SVO in females.
Kim
Younyoung
Y
Ilsong Institute of Life Science, Hallym University, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyonggi-do 431-060, South Korea.
Lee
Chaeyoung
C
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002545:Brain Ischemia / Q000235:genetics*; D015140:Dementia, Vascular / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors; D012737:Sex Factors; D020521:Stroke / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics*; D053773:Transforming Growth Factor beta1
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1