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Updated: May 28, 2026
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Published on: May 10, 2024
TGF-beta 1 codon 10 polymorphism is associated with cerebral SVD.
Hong-miao Tao1, Guo-zhong Chen, Xiao-dong Lu
1School of Medicine, Jinhua College of Profession & Technology, Zhejiang Province, The People's Republic of China.
Summary
The transforming growth factor-beta 1 (TGF-beta 1) gene
Area of Science:
- Neuroscience
- Genetics
- Inflammation Research
Background:
- Cerebral small vessel disease (SVD) pathogenesis involves inflammation.
- Investigating the role of transforming growth factor-beta 1 (TGF-beta 1) gene in SVD development.
- Examining TGF-beta 1 as a potential risk factor for SVD and its subtypes.
Purpose of the Study:
- To determine if the TGF-beta 1 gene is a risk factor for overall cerebral SVD.
- To assess the association of TGF-beta 1 with specific SVD subtypes: lacunar infarction and ischaemic leukoaraiosis.
Main Methods:
- Genotyping of TGF-beta 1 codon 10 (T+29C) in 441 Chinese SVD patients and 450 controls.
- Retrospective classification of SVD patients into lacunar infarction (n=112) and ischaemic leukoaraiosis (n=329) groups based on neuroimaging.
- Statistical analysis using odds ratios (OR) and confidence intervals (CI) to evaluate genetic associations.
Main Results:
- The TT homozygote genotype of TGF-beta 1 was associated with increased susceptibility to cerebral SVD (OR=1.44, P=0.026).
- A significant association was found between the TT genotype and the ischaemic leukoaraiosis subtype of SVD (OR=1.60, P=0.007).
Conclusions:
- The TGF-beta 1 gene, specifically codon 10, may represent a risk factor for cerebral SVD.
- The association is particularly notable for the ischaemic leukoaraiosis phenotype of SVD.
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