Genetic Variation at the Long Noncoding RNA H19 Gene is Associated with the Risk of Hypertrophic Cardiomyopathy

Abstract

Aim: The long noncoding RNA H19 and its host micro RNA miR-675 have been found deregulated in cardiac hypertrophy and heart failure tissues. Our aim was to investigate whether the H19 gene variants were associated with the risk of hypertrophic cardiomyopathy (HCM). Patients & methods: We genotyped two H19 tag single nucleotide polymorphisms in 405 HCM patients and 550 controls, and sequenced this gene in 100 patients. Results: The rs2107425 C was significantly increased in sarcomere no-mutation patients (n = 225; p = 0.01): CC versus CT + TT, p = 0.017; odd ratios: 1.51. Sequencing of the H19 coding transcript identified two patients heterozygous carriers for a rare variant, rs945977096 G/A, that was absent among the controls. Conclusion: Our study suggested a significant association between H19 variants and the risk of developing HCM.

Keywords::

• gene polymorphism
• H19 gene
• hypertrophic cardiomyopathy
• long-noncoding RNA

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/epi-2017-0175

Authors contributions

JR Reguero, R Lorca, C Morís, M Martín, B Díaz-Molina, P Avanzas recruited the patients and performed the clinical and echocardiographic studies; J Gómez, B Alonso, S Iglesias and E Coto performed the genetic studies; J Gómez and E Coto wrote the manuscript. All the authors have seen and approved the final version of the manuscript.

Financial & competing interests disclosure

This work was supported by grants of the Spanish Ministerio de Economía y Competitividad-Instituto de Salud Carlos III and the Fondos Europeos de Desarrollo Regional (FEDER funds; grants PI17/00648 and RETIC RD16/0009/0005). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

This work was supported by grants of the Spanish Ministerio de Economía y Competitividad-Instituto de Salud Carlos III and the Fondos Europeos de Desarrollo Regional (FEDER funds; grants PI17/00648 and RETIC RD16/0009/0005). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.