title: Genetic predisposition to calcific aortic stenosis and mitral annular calcification.
abstract: 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 mitral annular 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 valvular stenosis. It is possible to conclude that apoB (XbaI, rs1042031, and rs6725189), ACE (rs4340), IL10 (rs1800896 and rs1800872), and LPA (rs10455872) gene polymorphisms may be associated with valvular calcific stenosis with a relatively high level of evidence. A number of other polymorphisms, such as PvuII polymorphism within the ORα gene, 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, rs2071307 polymorphism within the ELN gene, rs17659543 and rs13415097 polymorphisms within the IL1F9 gene may correlate with a risk of calcific valve stenosis with 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 with low level of evidence.
authors.affiliation: Research 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.
authors.forename: Anton G
authors.initials: AG
authors.lastname: Kutikhin
authors.forename: Arseniy E
authors.initials: AE
authors.lastname: Yuzhalin
authors.forename: Elena B
authors.initials: EB
authors.lastname: Brusina
authors.forename: Anastasia V
authors.initials: AV
authors.lastname: Ponasenko
authors.forename: Alexey S
authors.initials: AS
authors.lastname: Golovkin
authors.forename: Olga L
authors.initials: OL
authors.lastname: Barbarash
mesh_terms: D000483:Alleles; D001021:Aortic Valve / Q000473:pathology*; D001024:Aortic Valve Stenosis / Q000235:genetics* / Q000473:pathology; D001055:Apolipoproteins B / Q000235:genetics / Q000378:metabolism; D043303:Aryldialkylphosphatase / Q000235:genetics; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D005069:Evaluation Studies as Topic; D020022:Genetic Predisposition to Disease; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics; D016753:Interleukin-10 / Q000235:genetics; D000081412:Myosin VIIa; D009218:Myosins / Q000235:genetics; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D011110:Polymorphism, Genetic; D044140:Receptor, Angiotensin, Type 1 / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D061205:Vascular Calcification / Q000235:genetics* / Q000473:pathology
chemical_list: C544065:AGTR1 protein, human; D001055:Apolipoproteins B; C095550:CASR protein, human; C508609:IL10 protein, human; C508589:IL36G protein, human; D007375:Interleukin-1; C000631455:MYO7A protein, human; D000081412:Myosin VIIa; D044140:Receptor, Angiotensin, Type 1; D018167:Receptors, Calcitriol; D044169:Receptors, Calcium-Sensing; C579457:VDR protein, human; D016753:Interleukin-10; D043303:Aryldialkylphosphatase; C468406:PON1 protein, human; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A; D009218:Myosins