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Transcobalamin 2 variant associated with poststroke homocysteine modifies recurrent stroke risk
F-C Hsu1, E G Sides, J C Mychaleckyj
1Department of Biostatistical Sciences, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Neurology
|October 7, 2011
Summary
Genetic variations in TCN2 and CBS genes impact homocysteine levels after stroke. Specific TCN2 gene variations may reduce the risk of recurrent stroke, particularly with cofactor therapy.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- Elevated homocysteine (Hcy) levels post-stroke are linked to recurrent stroke risk.
- The Vitamin Intervention for Stroke Prevention trial identified an association between baseline Hcy and recurrent stroke.
Purpose of the Study:
- Investigate genetic variations in the homocysteine metabolic pathway.
- Determine if single nucleotide polymorphisms (SNPs) in these genes are associated with Hcy levels.
- Assess whether associated SNPs influence the risk of recurrent stroke.
Main Methods:
- Genotyped 86 SNPs across 9 candidate genes involved in Hcy metabolism in 2,206 participants.
- Used linear regression to assess associations between SNPs and Hcy levels, adjusting for covariates.
- Employed survival analyses to evaluate the association between SNPs and recurrent stroke risk.
Main Results:
- Five SNPs in the transcobalamin 2 (TCN2) gene were associated with baseline Hcy levels.
- A specific TCN2 SNP (rs731991) was linked to a reduced risk of recurrent stroke in a subgroup receiving low-dose therapy.
- Five SNPs in the cystathionine β-synthase (CBS) gene were associated with changes in Hcy levels after methionine load.
Conclusions:
- Variants in the TCN2 gene influence poststroke homocysteine levels and affect recurrent stroke risk.
- Genetic variations in the CBS gene play a role in homocysteine metabolism.
- TCN2 gene variations may predict response to cofactor therapy for stroke prevention.
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