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Background: Single-nucleotide polymorphisms (SNPs) at the chromosome 9p21.3 locus are associated with coronary artery disease (CAD). An association of this genomic region with ischemic stroke independent of its effect on CAD could suggest an additional, stroke-specific pathophysiological relationship. Methods: Medical record review was used to identify 548 patients without a history of cerebrovascular disease and 232 who had a verified ischemic stroke or transient ischemic attack (TIA) from the Duke CATHGEN biorepository of patients who had a cardiac catheterization. ANCOVA and multivariable logistic regression modeling were performed to determine independent genetic associations between the key chromosome 9p21.3 SNP, rs10757278, and ischemic stroke by comparing allele frequencies between 229 patients with stroke or TIA and an equal number of matched nonstroke controls, adjusting for other risk factors. In a secondary analysis, controls were further divided based on the presence (n = 353) or absence (n = 195) of angiographic CAD. Results: Allele frequencies were similar between patients with and without a history of ischemic stroke in both additive (p = 0.83) and dominant (p = 0.92) models of genetic risk. There was no association between rs10757278 allele frequency and stroke status based on the presence or absence of angiographically demonstrated CAD in nonstroke controls (ANCOVA, p = 0.99). Conclusion: These results provide no evidence of a stroke-specific association of the 9p21.3 locus regardless of the presence or absence of angiographic CAD and highlight the need for larger studies to further evaluate this hypothesized relationship. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Oxidative stress plays an important role in vascular pathology and contributes to the pathophysiology of primary intracerebral hemorrhage (PICH). Glutathione peroxidase 1 (GPX1) is a key enzyme of the antioxidant system. Here, we investigated whether a functional C593T polymorphism of GPX1 gene is associated with PICH in a Polish population. Methods: Genotyping was performed in 192 PICH patients and 197 unrelated controls matched for age and sex. All were of Caucasian origin. The C593T GPX1 polymorphism was investigated using the polymerase chain reaction/restriction fragment length polymorphism method. Results: Multivariable logistic regression analysis revealed a significant association between genotypes containing the T allele and the entire PICH group (OR = 1.53; 95% CI = 1.02–2.29) and lobar PICH (OR = 2.36; 95% CI = 1.31–4.26) but not nonlobar PICH (OR = 1.19; 95% CI = 0.75–1.89). Conclusions: We found a positive association between the studied GPX1 polymorphism and lobar PICH in a Polish population. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]