Genetic variation on chromosome 9p21 shows association with large vessel disease in a Swedish sample aged ≤70 years

• Background: The aim of this study was to investigate whether we could replicate a recent finding of an association between genetic variants on chromosome 9p21 and the ischaemic stroke (IS) subtype large-vessel disease (LVD). Methods: The Sahlgrenska Academy Study on Ischemic Stroke comprises 844 patients with IS, who suffered IS before reaching the age of 70, and 668 healthy controls. IS subtype was defined according to the TOAST criteria, and 111 patients were categorized as LVD. Seven single-nucleotide polymorphisms (SNPs) on 9p21 were analyzed. Functional outcome was assessed 3 months after IS using the modified Rankin scale. Results: The SNP rs7857345 showed a significant association with the subtype LVD independent of traditional vascular risk factors. In addition, an association between rs7857345 and functional outcome after LVD was observed. Conclusion: In this relatively young sample of patients with IS, genetic variation on 9p21 is associated with LVD.

Nyckelord

functional outcome; genetics; ischaemic stroke; single nucleotide polymorphism; TOAST

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