Heritability and molecular genetic basis of acoustic startle eye blink and affectively modulated startle response: a genome-wide association study

Psychophysiology. 2014 Dec;51(12):1285-99. doi: 10.1111/psyp.12348.

Abstract

Acoustic startle responses have been studied extensively in relation to individual differences and psychopathology. We examined three indices of the blink response in a picture-viewing paradigm-overall startle magnitude across all picture types, and aversive and pleasant modulation scores-in 3,323 twins and parents. Biometric models and molecular genetic analyses showed that half the variance in overall startle was due to additive genetic effects. No single nucleotide polymorphism was genome-wide significant, but GRIK3 produced a significant effect when examined as part of a candidate gene set. In contrast, emotion modulation scores showed little evidence of heritability in either biometric or molecular genetic analyses. However, in a genome-wide scan, PARP14 produced a significant effect for aversive modulation. We conclude that, although overall startle retains potential as an endophenotype, emotion-modulated startle does not.

Keywords: Endophenotypes; GCTA; Gene-based tests; Genome-wide association study; Heritability; Molecular genetics; Startle.

Publication types

  • Research Support, N.I.H., Extramural
  • Twin Study

MeSH terms

  • Adolescent
  • Blinking
  • Child
  • Electromyography
  • Endophenotypes
  • Female
  • Genome-Wide Association Study
  • GluK3 Kainate Receptor
  • Humans
  • Individuality
  • Male
  • Photic Stimulation
  • Poly(ADP-ribose) Polymerases / genetics
  • Receptors, Kainic Acid / genetics
  • Reflex, Startle / genetics*
  • Sensory Gating / genetics*
  • Twins / genetics*
  • Young Adult

Substances

  • Receptors, Kainic Acid
  • PARP14 protein, human
  • Poly(ADP-ribose) Polymerases