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

Area of Science:

• Genetics and Cardiovascular Research
• Molecular Biology and Disease Mechanisms

Background:

• Intercellular adhesion molecule-1 (ICAM-1) and E-selectin are implicated as predictors of cardiovascular diseases (CVD), including peripheral arterial occlusive disease (PAOD).
• Understanding genetic predispositions is crucial for predicting and preventing CVD.

Purpose of the Study:

• To investigate the association between specific mutations in E-selectin (S128R) and ICAM-1 (K469E) and the risk of developing PAOD.
• To determine the prevalence of these genetic polymorphisms in an Egyptian population with PAOD compared to healthy controls.

Main Methods:

• Utilized polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
• Genotyped 156 PAOD patients and 100 control subjects for E-selectin S128R and ICAM-1 K469E mutations.
• Analyzed genotype distributions to identify significant associations with PAOD.

Main Results:

• The AC genotype of E-selectin was significantly more prevalent in PAOD patients (15.4%) than in controls (3%).
• The EE genotype of ICAM-1 was significantly more common in PAOD patients (30.8%) compared to controls (13%).
• Statistically significant differences were observed in the distribution of specific genotypes for both E-selectin and ICAM-1 between PAOD patients and control groups.

Conclusions:

• The S128R polymorphism in E-selectin and K469E polymorphism in ICAM-1 are associated with an increased risk of PAOD.
• Early identification of individuals carrying these specific gene polymorphisms can facilitate timely prophylactic measures against PAOD.