Role of ICAM-1 and E-selectin gene polymorphisms in pathogenesis of PAOD in Egyptian patients

Abstract

Background: Intercellular adhesion molecule-1 (ICAM-1) and E-selectin have been shown to predict cardiovascular disease (CVD) such as myocardial infarction, stroke, and peripheral arterial occlusive disease (PAOD).

Methods: Two mutations, S128R in E-selectin and K469E in ICAM-1, were investigated in 156 patients with PAOD and 100 control subjects using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in an Egyptian population.

Results: The distribution of E-selectin genotypes in patients affected by PAOD was 84.6% for the AA genotype and 15.4% for the AC genotype. In the control arm the distribution was 97% for the AA genotype and 3% for the AC genotype. There was a statistically significance difference in the distribution of the AC genotype in PAOD patients when compared with the control subjects. Additionally, the distribution of ICAM-1 genotypes in patients affected by PAOD was 30.8% with the EE, 48% with the EK, and 21.2% with the KK genotypes. The distribution of ICAM-1 genotypes in control subjects was 13% EE, 33% EK and 54% KK. The EE genotype was significantly more common in PAOD patients than in the controls.

Conclusion: S128R and K469E polymorphisms were associated with increased risk in PAOD. Early detection of these polymorphic genes helps in early prophylaxis against PAOD.

Keywords: E-selectin; ICAM-1; PAOD; RFLP; genotyping; polymorphism.

Figure 1a

Agarore gel electrophoresis 1.5% stained with ethidium bromide showing the E-selectin DNA product after digestion with Pstl. Lanes M: DNA marker. Lanes 1, 2: AA allelic polymorphism. Lane 3: AC allelic polymorphism. Lane 4: negative control.

Figure 1b

Agarose gel electrophorsis 2.5% stained with ethidium bromide showing the ICAM-1 DNA product after digestion with BstUI. Lanes 1, 2, 5, 10: EK allelic polymorphism. Lanes 3, 6–9: KK allelic polymorphism. Lanes 4, 11: EE allelic polymorphism.