Dissertation committee:
ΚΑΘΗΓΗΤΗΣ ΙΑΤΡΙΚΗΣ ΓΕΝΕΤΙΚΗΣ ΚΑΝΑΒΑΚΗΣ ΕΜΜΑΝΟΥΗΛ,ΚΑΘΗΓΗΤΡΙΑ ΙΑΤΡΙΚΗΣ ΓΕΝΕΤΙΚΗΣ ΚΙΤΣΙΟΥ-ΤΖΕΛΗ ΣΟΦΙΑ, ΑΝΑΠΛΗΡΩΤΗΣ ΚΑΘΗΓΗΤΗΣ ΝΕΥΡΟΛΟΓΙΑΣ ΣΠΕΓΓΟΣ ΚΩΝΣΤΑΝΤΙΝΟΣ
Summary:
ALOX5AP has been recognized as a susceptibility gene for stroke. The whole
coding and adjoining intronic regions of ALOX5AP was 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 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.
Keywords:
ALOX5AP, CNVs, SNPs, Splicing, Stroke
