Polymorphism Rs10455872 at The Lipoprotein(A) Gene Locus Enhances the Risk of Aortic Valve Disease

Vesela Tomova
2018 Journal of Cardiology & Cardiovascular Therapy  
Calcific aortic valve disease (CAVD) is a disorder of high social significance not only because it is widespread but also because it can progress subclinically over an extended period. After the development of severe aortic stenosis, the 2-year survival rate in the absence of surgical intervention is about 50%. Currently, the causes of this pathological condition and its exacerbation mechanisms remain unknown. Aim: To establish whether polymorphism rs10455872 at the lipoprotein (a) (LP(a)) gene
more » ... in (a) (LP(a)) gene locus, encoding LP(а), increases the risk of aortic valve disease. Material and methods: A total of 146 individuals (38 controls and 108 patients with CAVD) were examined. The blood biochemical parameters on admission were measured using standard techniques. Electrocardiography and transthoracic echocardiography were performed on all the subjects included in the study. Genotyping for LPA rs10455872 polymorphisms (A >G, intron 25) was performed using real-time PCR and specific software. Results: Obesity degree and serum level of LDL-cholesterol were higher in patients than in controls. We established that 19.4% of patients and 5.3% of controls had at least one mutant allele. A significant association was obtained between rs10455872 polymorphism and the cardiovascular disease (χ2=4.259, р=0.039). This association strength was found by the odds ratio, OR=4.345 (95% CI 0.968-19.501). Conclusion: Individuals with at least one mutant allele are four times more likely to develop CAVD as compared to persons of normal genotype. Confirming the genetic nature of the disease can help prevent or optimize treatment of this frequently encountered socially significant disease.
doi:10.19080/jocct.2018.09.555767 fatcat:epdnzuhbevaorbtgzqamt4aqbm