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Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy

Juan Gómez1, Rebeca Lorca1, Julián R Reguero1

  • 1Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias, Oviedo, Spain.

Epigenomics
|July 3, 2018
PubMed

Insights

Genetic variants in the H19 gene are linked to an increased risk of developing hypertrophic cardiomyopathy (HCM). This finding offers new insights into the genetic factors contributing to HCM development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • The long noncoding RNA H19 and its host microRNA miR-675 are deregulated in cardiac hypertrophy and heart failure.
  • Investigating genetic predispositions for cardiovascular diseases is crucial.

Purpose of the Study:

  • To determine if H19 gene variants are associated with the risk of hypertrophic cardiomyopathy (HCM).

Main Methods:

  • Genotyping of two H19 tag single nucleotide polymorphisms (SNPs) in 405 HCM patients and 550 controls.
  • Sequencing of the H19 gene in 100 HCM patients.

Main Results:

  • The rs2107425 C allele was significantly more frequent in HCM patients without sarcomere mutations (p=0.01).
  • A rare H19 variant (rs945977096 G/A) was identified in two HCM patients but not in controls.

Conclusions:

  • H19 gene variants show a significant association with the risk of developing HCM.
  • These findings suggest H19 may play a role in HCM pathogenesis.
Abstract

Keywords:
H19 genegene polymorphismhypertrophic cardiomyopathylong-noncoding RNA

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