Genetic predictors of calcific valvular heart disease

Authors: Ponasenko A.V.1, Kutikhin A.G.1, Khutornaya M.V.1, Yuzhalin A.E.2, Tsepokina A.V.1, Golovkin A.S.1, Barbarash O.L.1

Company: 1 Research Institute for Complex Issues of Cardiovascular Diseases; Sosnovyy bul’var, 6, Kemerovo, 650002, Russian Federation;
2 Oxford Institute for Radiation Oncology; Roosevelt Drive, Oxford, OX3 7DQ, United Kingdom

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Type:  Heart valve and coronary artery calcification


For citation: Ponasenko A.V., Kutikhin A.G., Khutornaya M.V. et al. Genetic predictors of calcific valvular heart disease. Kreativnaya Kardiologiya. 2016; 10 (2): 103-116 (in Russian)

Keywords: calcification heart valves aortic stenosis mitral annular mitral valve gene polymorphisms genetic susceptibility

Full text:  



Valvular calcification precedes the development of valvular stenosis and may represent an important early phenotype for valvular heart disease. It is known that development of valvular calcification is likely to occur among members of a family. However, the knowledge about the role of genomic predictive markers in valvular calcification is still elusive. Aims of this review are to assess the impact of gene polymorphisms on risk and severity of aortic stenosis and heart valve calcification. According to the results of the investigations carried out, all polymorphisms may be divided into the three groups conferring the level of evidence of their association with these diseases. It is possible to conclude that APOB (rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896 and rs1800872), and LPA (rs10455872) gene polymorphisms may be associated with aortic stenosis with a relatively high level of evidence. A number of other polymorphisms, such as rs1042636 polymorphism within the CaSR gene, rs3024491, rs3021094, rs1554286, and rs3024498 polymorphisms within the IL10 gene, rs662 polymorphism within the PON1 gene, rs2276288 polymorphism within the MYO7A gene, rs5194 polymorphism within the AGTR1 gene, and rs2071307 polymorphism within the ELN gene, may be associated with aortic stenosis whilst rs17659543 and rs13415097 polymorphisms within the IL1F9 gene may correlate with a risk of mitral annular calcification with a moderate level of evidence. Certain polymorphisms within the genes of calcium signaling pathway (RUNX2 and CACNA1C) are also associated with heart valve calcification with a moderate level of evidence. Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the APOE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis, whereas rs4340 polymorphism within the ACE gene correlates with mitral annular calcification with a low level of evidence.


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About Authors

  • Ponasenko Anastasiya Valerievna, MD, PhD, Chief of Laboratory;
  • Kutikhin Anton Gennad'evich, Junior Research Associate;
  • Khutornaya Mariya Vladimirovna, Junior Research Associate;
  • Yuzhalin Arseniy Evgen'evich, Postgraduate;
  • Tsepokina Anna Viktorovna, Junior Research Associate;
  • Golovkin Aleksey Sergeevich, MD, DM, Senior Research Associate;
  • Barbarash Ol'ga Leonidovna, MD, DM, Professor, Director of Research Institute for Complex Issues of Cardiovascular Diseases

Chief Editor

Leo A. Bockeria, MD, PhD, DSc, Professor, Academician of Russian Academy of Sciences, President of Bakoulev National Medical Research Center for Cardiovascular Surgery