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Genetic predisposition to calcific aortic stenosis and mitral annular calcification

Anton G Kutikhin1, Arseniy E Yuzhalin, Elena B Brusina

  • 1Research Institute for Complex Issues of Cardiovascular Diseases Under the Siberian Branch of the Russian Academy of Medical Sciences, Sosnovy Blvd 6, 650002, Kemerovo, Russian Federation, antonkutikhin@gmail.com.

Molecular Biology Reports
|June 7, 2014
PubMed

Insights

Genetic variations influence valvular calcification risk and severity. Certain gene polymorphisms, including apoB, ACE, IL10, and LPA, show a high association with valvular stenosis, aiding in early disease prediction.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetics of Valvular Heart Disease

Background:

  • Valvular calcification is an early indicator of valvular heart disease and often runs in families.
  • The genetic underpinnings of valvular calcification, particularly predictive markers, remain largely unexplored.
  • Understanding genetic predispositions is crucial for early identification and management of valvular heart disease.

Purpose of the Study:

  • To review and assess the impact of gene polymorphisms on the risk and severity of aortic stenosis and mitral annular calcification.
  • To categorize genetic markers based on their evidential association with valvular stenosis.
  • To identify key genetic polymorphisms associated with valvular calcific stenosis.

Main Methods:

  • Systematic review of existing investigations on gene polymorphisms and valvular calcification.
  • Categorization of gene polymorphisms into groups based on the level of evidence linking them to valvular stenosis.
  • Analysis of specific polymorphisms within genes such as apoB, ACE, IL10, LPA, ORα, CaSR, PON1, MYO7A, AGTR1, ELN, IL1F9, VDR, apoE, and PTH.

Main Results:

  • Gene polymorphisms were classified into three evidence-based groups regarding their association with valvular stenosis.
  • High evidence of association was found for apoB (XbaI, rs1042031, rs6725189), ACE (rs4340), IL10 (rs1800896, rs1800872), and LPA (rs10455872).
  • Moderate and low levels of evidence linked other polymorphisms (e.g., ORα, CaSR, IL10, PON1, VDR, apoE) to valvular calcification risk and aortic stenosis.

Conclusions:

  • Specific gene polymorphisms, notably apoB, ACE, IL10, and LPA, are strongly associated with valvular calcific stenosis.
  • Several other gene polymorphisms demonstrate moderate to low evidence of association with the risk of calcific valve stenosis and aortic stenosis.
  • These findings highlight the potential of genomic markers for predicting valvular calcification and guiding early interventions in valvular heart disease.

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