ICAM-1 and SRD5A1 gene polymorphisms in symptomatic peripheral artery disease

Area of Science:

• Genetics
• Cardiovascular Disease
• Metabolic Disorders

Background:

• Peripheral artery disease (PAD) is a significant health concern, often linked to genetic predispositions.
• Gene polymorphisms in ICAM-1 (rs5498) and SRD5A1 (rs248793) have been previously investigated for their association with PAD.
• Understanding genetic risk factors is crucial for PAD prevention and treatment strategies.

Purpose of the Study:

• To evaluate the genotype distribution of rs5498 (ICAM-1) and rs248793 (SRD5A1) in diabetic (DPAD) and non-diabetic (NDPAD) patients with symptomatic PAD (stages II-IV).
• To determine the association of specific genotypes with the presence and severity of PAD in different glycemic status groups.

Main Methods:

• Case-control study comparing genotype frequencies in PAD patients (DPAD and NDPAD) versus control groups.
• Genotyping was performed for rs5498 (ICAM-1) and rs248793 (SRD5A1) polymorphisms.
• Statistical analysis, including chi-squared tests, was used to assess genotype distribution differences.

Main Results:

• A non-significant trend towards decreased frequency of the AA genotype of rs5498 (ICAM-1) was observed in PAD subjects (p=0.06).
• A significant increase in the GG homozygous genotype frequency of rs248793 (SRD5A1) was found in the PAD patient group compared to controls (p=0.01).
• The GG genotype of rs248793 showed a trend towards a stronger association with PAD in non-diabetic individuals.

Conclusions:

• The GG genotype of rs248793 in the SRD5A1 gene is significantly associated with symptomatic peripheral artery disease.
• There is a potential trend suggesting a stronger association between the SRD5A1 GG genotype and PAD in non-diabetic patients.
• Further research may elucidate the specific role of SRD5A1 gene variants in PAD pathogenesis, especially concerning glycemic status.