Possible counter effect in newborns of 1936A>G (I646V) polymorphism in the AKAP10 gene encoding A-kinase-anchoring protein 10

J Perinatol. 2012 Mar;32(3):230-4. doi: 10.1038/jp.2011.85. Epub 2011 Jun 23.

Abstract

Objective: Cyclic adenosine monophosphate/protein kinase A (PKA) is important in embryonic development. The human AKAP10 gene is polymorphic: 1936A>G results in changes to a PKA-binding domain and increased targeting to mitochondria. Previous studies found G1936 as 'deleterious' in adults, and this study investigates whether this holds true in preterm birth.

Study design: Study group consisted of 80 preterm newborns (PTNs) born before the 38th gestation week. Control group consisted of 123 full-term healthy newborns born after the 37th gestation week with uncomplicated pregnancies. Genomic DNA was extracted from umbilical blood and AKAP10 genotypes were identified by PCR/restriction enzyme.

Result: Significant differences in frequencies of 1936A>G genotypes/alleles between both groups were found. PTNs had increased frequency (55%) of AA homozygotes (odds ratio, AA versus AG+GG: 2.63 (95% confidence interval: 1.33 to 5.20), P=0.006) after adjustments: mothers with previous PTNs, smoking, first pregnancy, first delivery and Cesarean section.

Conclusion: Results suggest G1936 is preventative factor against preterm birth, in contrast with previously asserted negative effects in adults.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • A Kinase Anchor Proteins / genetics*
  • Adult
  • Female
  • Genetic Fitness
  • Genotype
  • Humans
  • Infant, Newborn
  • Infant, Premature*
  • Logistic Models
  • Polymorphism, Genetic
  • Pregnancy
  • Premature Birth / genetics*

Substances

  • A Kinase Anchor Proteins
  • AKAP10 protein, human