Key result
Specific genetic variants (e.g., rs1333049, rs3739998) were associated with susceptibility to the cardiovascular disease continuum, acting as cis-eQTL loci affecting gene expression in target organs.
Why the study?
The study was conducted to analyze the genetic structure of susceptibility to cardiovascular disease continuum comorbidity and assess the functional importance of associated genetic variants.
Observational
Specific genetic polymorphisms are associated with susceptibility to the cardiovascular disease continuum and act as cis-eQTL loci affecting gene expression in target organs.
These variants may refine future genetic risk models for MI in CHD; leaves open prospective validation before any clinical adoption.
The genetic structure of susceptibility to cardiovascular disease continuum (CVDC) comorbidity was analyzed, and the functional importance of the genetic variants associated with the pathology was assessed. The association with CVDC was demonstrated for the rs1333049 (CDKN2B-AS1), rs3739998 (KIAA1462), rs3765124 (ADAMDEC1), and rs1007856 (ITGB5) polymorphisms that formed the genetic structure of susceptibility to CHD complicated by MI, regardless of the presence/absence of risk factors. The rs626750 (MMP3/MMP12), rs1991401 (DDX5), rs2878771 (AQP2), and rs2277698 (TIMP2) polymorphisms were associated with coronary heart disease (CHD) and MI depending on the presence of risk factors (AH, HC, and T2DM). The association with MI without comorbidities was demonstrated for rs3739998 (KIAA1462), rs1991401 (DDX5), and rs2878771 (AQP2); with MI + AH, for rs1333049 (CDKN2B-AS1), rs3765124 (ADAMDEC1), and rs1007856 (ITGB5); with MI + AH + HC, for rs1333049 (CDKN2B-AS1), rs3765124 (ADAMDEC1), rs1007856 (ITGB5), and rs626750 (MMP3/MMP12); and the association with “CVDC syntropy” was found for rs3739998 (KIAA1462) and rs2277698 (TIMP2). All SNPs associated with CVDC were cis-eQTL loci and affected gene expression in tissues of CVDC target organs or changed the transcription factor affinity as a result of the binding site loss or gain.
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Гончарова et al. (2022) conducted an observational in Cardiovascular disease continuum (CVDC) comorbidity. Genetic variants (SNPs) was evaluated on Susceptibility to cardiovascular disease continuum (CVDC) comorbidity. Specific genetic variants (e.g., rs1333049, rs3739998) were associated with susceptibility to the cardiovascular disease continuum, acting as cis-eQTL loci affecting gene expression in target organs.
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