PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure

J Hum Genet. 2015 Mar;60(3):147-50. doi: 10.1038/jhg.2014.107. Epub 2014 Dec 18.

Abstract

PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that single-nucleotide polymorphisms within the intron and 3'-untranslated region segments of several human PlexinA genes alter the post-natal developmental trajectory of corpus callosum microstructure. This is the first demonstration that PLXNA mediation of neuroanatomical traits can be detected in humans using in vivo neuroimaging techniques. This result should encourage future research that targets specific disease-related polymorphisms and their relevant neural pathways.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Anisotropy
  • Child
  • Child, Preschool
  • Corpus Callosum / anatomy & histology*
  • Corpus Callosum / growth & development
  • Diffusion Tensor Imaging / methods
  • Female
  • Genetic Association Studies
  • Genotype
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Receptors, Cell Surface / genetics*
  • Young Adult

Substances

  • Nerve Tissue Proteins
  • PLXNA1 protein, human
  • PLXNA2 protein, human
  • PLXNA3 protein, human
  • Plxna4 protein, human
  • Receptors, Cell Surface