Genomic Study of Cardiovascular Continuum Comorbidity

Area of Science:

• Genetics and Genomics
• Cardiovascular Disease Research
• Personalized Medicine

Background:

• Comorbidity, the presence of multiple diseases in one individual, is common but its genetic basis is not fully understood.
• Genomic data analysis offers new approaches to investigate the genetic profiles of patients with multiple diseases (polypathia) compared to those with single diseases.

Purpose of the Study:

• To investigate the genetic background of non-random combinations of cardiovascular disorders.
• To compare the genetic profiles of patients with single ischemic heart disease (IHD), combined IHD and arterial hypertension (AH), and multiple cardiovascular continuum (CVC) diseases.

Main Methods:

• An association study was conducted with three patient groups: IHD only, IHD and AH, and multiple CVC diseases (including IHD, AH, type 2 diabetes mellitus, and hypercholesterolemia).
• A control group of relatively healthy individuals was included.
• Genotyping of 1,400 polymorphic genetic variants was performed using the 'My Gene' genomic service.

Main Results:

• 14 polymorphic variants were associated with 'IHD only', 13 with 'IHD and AH', and 14 with 'multiple CVC diseases'.
• Specific genetic markers were identified for each phenotype, with some shared markers between 'IHD only' and 'IHD and AH' (e.g., SCARB1 gene variant rs4765623).
• Lipid-metabolizing genes were implicated in all CVC variants, while immunity-response genes were specific to the 'IHD only' phenotype.

Conclusions:

• The genetic profiles of combined cardiovascular diseases differ significantly from isolated forms.
• Comorbidity presents unique challenges in genetic association studies for disease predisposition.
• Identifying distinct genetic markers for different comorbidity patterns is essential for advancing personalized medicine approaches.