Common genetic variants of the BMP4, BMPR1A, BMPR1B, and ACVR1 genes, left ventricular mass, and other parameters of the heart in newborns

Genet Test Mol Biomarkers. 2012 Nov;16(11):1309-16. doi: 10.1089/gtmb.2012.0164. Epub 2012 Sep 12.

Abstract

The members of the family of bone morphogenetic proteins (BMPs) are important regulators in cardiac development. The present study was designed to evaluate the effect of common genetic variants of BMP-4 and its receptors BMPR1A, BMPR1B, and ACVR1 on left ventricular mass (LVM) and other parameters of the heart and blood pressure in newborns. The study included 210 healthy newborns. Two-dimensional M-mode echocardiography was used to assess LVM between days 3 and 4 after birth. Polymorphisms were determined by the polymerase chain reaction-restriction fragment length polymorphism technique. We found lack of associations between LVM, values of blood pressure, and the BMP4, BMPR1A, BMPR1B, and ACVR1 genotypes. A significant association was observed between the 455C allele of BMP4 and increased left ventricular internal diameter systolic (p=0.004) and between 1650T allele of BMPR1B and lower left atrium diameter (p=0.038). Presence of the 455C allele of BMP4 and the 8474T allele of ACVR1 gene was significantly associated with decreased left ventricular ejection fraction (LVEF) (p=0.0004 and p=0.046, respectively). The 455C allele of BMP4 and the 8474T allele of ACVR1 may play a role as significant predictors for decreased LVEF in newborns.

MeSH terms

  • Activin Receptors, Type I / genetics*
  • Blood Pressure
  • Bone Morphogenetic Protein 4 / genetics*
  • Bone Morphogenetic Protein Receptors, Type I / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Heart Ventricles / anatomy & histology*
  • Heart Ventricles / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Myocardium / metabolism*
  • Polymorphism, Genetic
  • Ultrasonography

Substances

  • BMP4 protein, human
  • Bone Morphogenetic Protein 4
  • ACVR1 protein, human
  • Activin Receptors, Type I
  • BMPR1A protein, human
  • BMPR1B protein, human
  • Bone Morphogenetic Protein Receptors, Type I