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Gene. 2014 Sep 10;548(1):56-60. doi: 10.1016/j.gene.2014.07.007. Epub 2014 Jul 8.

Are ALOX5AP gene SNPs a risk or protective factor for stroke?

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Department of Medical Genetics, Medical School, University of Athens, Greece.
First Department of Neurology, University of Athens Medical School, Athens, Greece.
Collaborative Center for Clinical Epidemiology and Outcomes Research (CLEO), 1st and 2nd Departments of Pediatrics, Aghia Sophia Children's Hospital, Athens, Greece.
Department of Medical Genetics, Medical School, University of Athens, Greece; Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital, Athens, Greece.
Department of Medical Genetics, Medical School, University of Athens, Greece. Electronic address:


ALOX5AP (5-lipoxygenase) has been recognized as a susceptibility gene for stroke. Using a case-control design, the whole coding and adjoining intronic regions of ALOX5AP were sequenced to study the role of SNPs and their interplay with other risk factors in Greek patients with stroke. Patients (n=213) were classified by the Trial of Org 10172 in Acute Stroke Treatment (TOAST). Their mean age of was 58.9 ± 14.64, comprising 145 males. The control group consisted of 210 subjects, ethnicity, sex and age matched, with no stroke history. Risk factors (hyperlipidemia, hypertension, atrial fibrillation, migraine, CAD, diabetes, smoking and alcohol consumption) were assessed as confounding factors and comparisons were done using logistic regression analysis. SNPs rs4769055, rs202068154 and rs3803277 located in intronic regions of the gene and according to in silico programs EX_SKIP and HSF possibly affecting splicing of exons 1 and 2 of ALOX5AP, showed significantly different frequencies between patients and controls. The genotype frequencies of rs4769055: AA, of rs202068154: AC and of rs3803277: CA were significantly higher (p<0.001, 0.058) in controls than in patients. The results were indicative of a protective role of the three SNPs either in homozygosity or heterozygosity for MAF and more specifically rs3803277: CA/AA genotypes were protective against SVO stroke subtype.


ALOX5AP; Mutations; SNPs; Splicing; Stroke

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