Title: Study of genetic risk factors for ischemic stroke
Laboratory/Hospital: Neurovascular Research Laboratory, Hospital Vall d’Hebron
Persons in charge of the project: Israel Fernández-Cadenas and Sophie Domingues-Montanari
Contact: Israel Fernández-Cadenas

Introduction:
In a previous study by our group, the CONIC study, we identified several polymorphisms that could be risk factors for ischemic stroke in the Spanish population. We analyzed 236 polymorphisms in 270 cases and 270 controls, and then replicated these results in a new population of 270 cases and 270 controls. We found significant associations and five of these associations could be replicated and were associated with gene expression levels or protein level or activity.

Objectives:

1- Replicate the results obtained in the CONIC study in a new independent subset from the Spanish population.
2- Verify the predictive model created for the risk of ischemic stroke in a new population of cases and controls.

Methods: Using the TaqMan technology, allelic discrimination or direct sequencing, we will analyze 13 polymorphisms in a new subset of 500 cases and 500 controls. The analysis of the results will be performed with SPSS 15.0 and the results will be compared and validated to the predictive model created.

Requirements: DNA samples of ischemic stroke cases and controls, matched per age and gender. 280ng of total DNA will be required with a minimal concentration of 10ng/uL. So the total DNA required would be 28uL, with a concentration of 10ng/uL. The optimal concentration necessary would be 15uL at a concentration of 20ng/uL or more.

Cases: Ischemic stroke patients with an etiology according to the TOAST criteria or atherothrombotic or cardioembolic. In a first stage, undetermined and lacunar etiologies will be excluded. The clinical and demographic data required are the following: Presence or not of hypertension (systolic BP ≥ 140mmHg, diastolic BP ≥ 85 mmHg, history of hypertension or treatment for hypertension), presence or not of diabetes type 2 (high glycemia level fasting ≥ 126 mg/dL or treatment for diabetes), dyslipidemia (total cholesterol >200 mg/dL or LDL >130mg/dL or tryglicemia >200 mg/dL, history of dyslipidemia or treatment for dyslipidemia), TOAST, smoking, age, gender, place of birth (in Spain), ethnie (white or Caucasian).

Controls: persons without any antecedents of stroke, nor familiar antecedents of stroke in first degree relatives. The clinical and demographic data required are the following: Presence or not of hypertension, presence or not of diabetes type 2, dyslipidemia, smoking, age, gender, place of birth (in Spain), ethnie (White or Caucasian).

Ideally, we would need all this information, although it will not be an exclusion factor.

Project funding: Sending of the samples, genotyping and data analysis will be funded by the Laboratory of Neurovascular Research. Any publications will reflect the role of the centres involved as co-authors of the article.

Contact: The centers interested in participating should contact: Israel Fernández-Cadenas.