Interleukin-1 gene cluster variants and abdominal aortic aneurysms

Area of Science:

• Genetics
• Cardiovascular Disease
• Immunology

Background:

• Inflammation is crucial in abdominal aortic aneurysm (AAA) pathogenesis.
• Interleukin-1 (IL-1) is a key inflammatory regulator implicated in AAA.
• Functional polymorphisms within the IL-1 gene cluster are known.

Purpose of the Study:

• To investigate the association between genetic variants in IL-1 and IL-1 receptor antagonist (IL-1 RN) and AAA.
• To determine if specific single nucleotide polymorphisms (SNPs) in the IL-1 gene cluster contribute to AAA development.

Main Methods:

• A matched case-control study involving 135 AAA patients and 270 coronary artery disease (CAD) controls.
• Genotyping of six SNPs: IL-1A (-889) C>T, IL-1A (+4845) G>T, IL-1B (-511) C>T, IL-1B (-31) C>T, IL-1B (+3954) C>T, and IL-1RN (+2018) C>T.
• Multivariable conditional logistic regression analysis to compare SNP distribution between groups.

Main Results:

• Four SNPs (IL-1RN (+2018) C>T, IL-1B (+3954) C>T, IL-1B (-511) C>T, IL-1A (+4845) G>T) were analyzed after accounting for linkage disequilibrium.
• None of the analyzed genetic variants showed a statistically significant association with AAA.
• No significant first-degree interactions were detected between the genetic variants and AAA.

Conclusions:

• The investigated genetic variants within the IL-1 gene cluster do not appear to play a clinically significant role in the pathogenesis of AAA.
• Higher-order gene-gene or gene-environment interactions cannot be entirely excluded as potential contributors to AAA development.