RANK/RANKL/OPG gene polymorphisms and aortic valve stenosis – preliminary data

    Authors

    Keywords

    aortic stenosis, gene polymorphism, osteoprotegrine, RANK/RANKL/OPG

    DOI

    https://doi.org/10.15836/ccar2016.538

    Full Text

    **Objective:** Aortic valve stenosis (AS) is the most frequent heart valve disease among adults in the Western societies with ever increasing prevalence due to the rapidly ageing population. Currently there are no effective pharmacological therapies to prevent or slow the progression of AS and the surgical aortic valve replacement (AVR) or less invasive transcatheter aortic valve replacement (TAVR) procedure is still the only clinical therapy at hand for its successful treatment. Numerous research studies have shown association of genetic polimorphism with the prevalence of aortic valve stenosis. (1-3) Aims of this study are to assess the impact of RANK/RANKL/OPG gene polymorphisms on risk and severity of aortic stenosis. Herein we present the data for the rs3102735 osteoprotegrin (OPG/TNRSF11B) gene polymorphism. **Patients and Methods:** The study included 92 AS patients and 131 healthy control subjects. The rs3102735 OPG gene polymorphism was identified using the quantitative real time polymerase chain reaction (qRT-PCR) and the TaqMan® SNP Genotyping Assay (Life Technologies Corporation, Carlsbad, California, USA). **Results:** The OPG rs3102735 (C/T transition, substitution) genotype and allele distribution in AS patients (CC=2.2%, CT=30.4% and TT=67.4%; C=17.4%, T=82. 6%) did not significantly (p>0.05) differ from those in control group (CC=0.8%, CT=22.9% and TT=76.3%; C=12.2%, T=87.8%). Also, no statistically significant difference was found between the AS patient and control subject group stratified by gender. **Conclusion:** This patient-control study shows that rs3102735 osteoprotegrin (OPG/TNRSF11B) gene polymorphism is not genetic risk factors for AS..

    Literature

    1. Anger T, Ekici AB, Daniel WG, Garlichs CD. Gene polymorphisms leading to calcified and stenotic aortic valves. Herz. 2006;31(7):635–43. https://doi.org/10.1007/s00059-006-2881-z
    2. Gaudreault N, Ducharme V, Lamontagne M, Guauque-Olarte S, Mathieu P, Pibarot P, et al. Replication of genetic association studies in aortic stenosis in adults. Am J Cardiol. 2011;108(9):1305–10. https://doi.org/10.1016/j.amjcard.2011.06.050
    3. Makarović S, Makarović Z, Steiner R, Mihaljević I, Milas-Ahić J. Osteoprotegerin and Vascular Calcification: Clinical and Prognostic Relevance. Coll Antropol. 2015;39(2):461–8. https://pubmed.ncbi.nlm.nih.gov/26753467/
    Cardiologia Croatica
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    RANK/RANKL/OPG gene polymorphisms and aortic valve stenosis – preliminary data

    Extended Abstract
    Issue10-11
    Published
    Pages538
    PDF via DOIhttps://doi.org/10.15836/ccar2016.538
    aortic stenosis
    gene polymorphism
    osteoprotegrine
    RANK/RANKL/OPG

    Authors

    Martina Zeljko*University Hospital Merkur, Zagreb, Croatia
    Igor GoševUMass Memorial Medical Center, Worcester, Massachusetts, United States of America
    Damir KozmarORCIDUniversity Hospital Merkur, Zagreb, Croatia
    Darko VujanićORCIDUniversity Hospital Merkur, Zagreb, Croatia
    Zoran LegčevićUniversity of Zagreb School of Medicine, Zagreb, Croatia
    Dino BešićORCIDUniversity of Zagreb School of Medicine, Zagreb, Croatia
    Frane PaićORCIDUniversity of Zagreb School of Medicine, Zagreb, Croatia

    *Correspondence email: martina.zeljko2@gmail.com

    Full Text

    Objective: Aortic valve stenosis (AS) is the most frequent heart valve disease among adults in the Western societies with ever increasing prevalence due to the rapidly ageing population. Currently there are no effective pharmacological therapies to prevent or slow the progression of AS and the surgical aortic valve replacement (AVR) or less invasive transcatheter aortic valve replacement (TAVR) procedure is still the only clinical therapy at hand for its successful treatment. Numerous research studies have shown association of genetic polimorphism with the prevalence of aortic valve stenosis. (1–3) Aims of this study are to assess the impact of RANK/RANKL/OPG gene polymorphisms on risk and severity of aortic stenosis. Herein we present the data for the rs3102735 osteoprotegrin (OPG/TNRSF11B) gene polymorphism.

    Patients and Methods: The study included 92 AS patients and 131 healthy control subjects. The rs3102735 OPG gene polymorphism was identified using the quantitative real time polymerase chain reaction (qRT-PCR) and the TaqMan® SNP Genotyping Assay (Life Technologies Corporation, Carlsbad, California, USA).

    Results: The OPG rs3102735 (C/T transition, substitution) genotype and allele distribution in AS patients (CC=2.2%, CT=30.4% and TT=67.4%; C=17.4%, T=82. 6%) did not significantly (p>0.05) differ from those in control group (CC=0.8%, CT=22.9% and TT=76.3%; C=12.2%, T=87.8%). Also, no statistically significant difference was found between the AS patient and control subject group stratified by gender.

    Conclusion: This patient-control study shows that rs3102735 osteoprotegrin (OPG/TNRSF11B) gene polymorphism is not genetic risk factors for AS..

    Literature

    1. 1.
      Anger T, Ekici AB, Daniel WG, Garlichs CD. Gene polymorphisms leading to calcified and stenotic aortic valves. Herz. 2006;31(7):635–43.DOI
    2. 2.
      Gaudreault N, Ducharme V, Lamontagne M, Guauque-Olarte S, Mathieu P, Pibarot P, et al. Replication of genetic association studies in aortic stenosis in adults. Am J Cardiol. 2011;108(9):1305–10.DOI
    3. 3.
      Makarović S, Makarović Z, Steiner R, Mihaljević I, Milas-Ahić J. Osteoprotegerin and Vascular Calcification: Clinical and Prognostic Relevance. Coll Antropol. 2015;39(2):461–8.PubMed