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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 2005 May;76(5):696–699. doi: 10.1136/jnnp.2003.034454

Association of a polymorphism of the transforming growth factor-ß1 gene with cerebral amyloid angiopathy

T Hamaguchi 1, S Okino 1, N Sodeyama 1, Y Itoh 1, A Takahashi 1, E Otomo 1, M Matsushita 1, H Mizusawa 1, M Yamada 1
PMCID: PMC1739647  PMID: 15834029

Abstract

Background: A recent study showed that transforming growth factor-ß1 (TGF-ß1) induces amyloid-ß deposition in cerebral blood vessels and meninges of a transgenic mouse model of Alzheimer's disease (AD), and that TGF-ß1 mRNA levels are correlated with cerebral amyloid angiopathy (CAA) in human AD brains. A T/C polymorphism at codon 10 in exon 1 of the TGF-ß1 gene has been reported to be associated with the serum TGF-ß1 concentration. We investigated whether the TGF-ß1 polymorphism is associated with the risk of CAA.

Methods: The association between the severity of CAA and the T/C polymorphism at codon 10 in exon 1 of the TGF-ß1 was investigated in 167 elderly Japanese autopsy cases, including 73 patients with AD. The apolipoprotein E (APOE) genotype was also determined.

Results: The genotypes (TT/ TC/ CC) were associated with the severity of CAA significantly in all patients (p = 0.0026), in non-AD patients (p = 0.011), and APOE non-ε4 carriers (p = 0.0099), but not in AD patients or APOE ε4 carriers. The number of the T alleles positively correlated with the severity of CAA in all patients (p = 0.0011), non-AD patients (p = 0.0026), and APOE non-ε4 carriers (p = 0.0028), but not in AD patients or APOE ε4 carriers. The polymorphism was not significantly associated with AD.

Conclusions: Our results suggest that the polymorphism in TGF-ß1 is associated with the severity of CAA, especially in non-AD patients and APOE non-ε4 carriers.

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