Polymorphism 1936A > G in the AKAP10 gene (encoding A-kinase-anchoring protein 10) is associated with higher cholesterol cord blood concentration in Polish full-term newsborns

J Perinat Med. 2013 Mar;41(2):205-10. doi: 10.1515/jpm-2012-0048.

Abstract

Aims: A-Kinase anchoring proteins (AKAPs) coordinate the specificity of protein kinase A signaling by localizing the kinase to subcellular sites. The 1936G (V646) AKAP10 allele has been associated with adults with low cholinergic/vagus nerve sensitivity and with newborns with increased blood pressure. Decreased activity of the parasympathetic system is associated with risk of metabolic syndrome. The aim of this study was to answer the question of whether 1936A > G AKAP10 polymorphism is associated with metabolic changes in full-term newborns that are predictive factors for the metabolic phenotype in adulthood.

Methods: The study included 114 consecutive healthy Polish newborns born after the end of the 37 th week of gestation to healthy women with uncomplicated pregnancies. At birth, cord blood of neonates was obtained for isolation of genomic DNA and cholesterol as well as triglyceride concentration.

Results: The cholesterol level in homozygotes GG was significantly higher than that in 1936A variant carriers (AG + AA, recessive mode of inheritance).

Conclusions: Our results demonstrate a possible association between the 1936G AKAP10 variant and the total cholesterol level in the cord blood of the Polish newborn population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • A Kinase Anchor Proteins / genetics*
  • A Kinase Anchor Proteins / physiology
  • Adult
  • Cholesterol / blood*
  • Cholesterol / genetics*
  • Female
  • Fetal Blood / metabolism*
  • Genetic Association Studies
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Metabolic Syndrome / genetics
  • Parasympathetic Nervous System / physiology
  • Poland
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Triglycerides / blood

Substances

  • A Kinase Anchor Proteins
  • AKAP10 protein, human
  • Triglycerides
  • Cholesterol