Chromosome 12p13 variants predict recurrence of ischaemic stroke in a Chinese population.

BACKGROUND AND PURPOSE

A recent genome-wide association study identified two genetic variants (rs12425791 and rs11833579) on chromosome 12p13 that confer risk of ischaemic stroke. The purpose of this study was to examine whether these two polymorphisms are associated with stroke onset and prognosis in a Chinese population.

METHODS

rs12425791 and rs11833579 were genotyped using the improved multiple ligase detection reaction in 913 patients with ischaemic stroke. Analyses of genotype association with onset and prognosis outcomes were evaluated by the Kaplan-Meier method, the log-rank test and Cox proportional hazards models.

RESULTS

rs12425791 and rs11833579 were not associated with age of stroke onset (P = 0.786 and 0.340, respectively). However, these two polymorphisms were significantly associated with risk of stroke recurrence, especially for the large-artery atherosclerosis (LAA) subtype, in recessive models [hazard ratio (HR) 2.52; 95% confidence interval (CI) 1.04-6.12 for rs12425791; HR 2.13; 95% CI 1.03-4.40 for rs11833579]. The combined genotype of these two single-nucleotide polymorphisms showed a locus-dosage effect on recurrence of LAA subtype and was an independent prognostic factor for LAA subtype in the final multivariate Cox regression model.

CONCLUSIONS

These findings indicated that rs12425791 and rs11833579 on chromosome 12p13 may be useful biomarkers for predicting the prognosis of patients with the LAA subtype of ischaemic stroke.