Inhibitory neurophysiological deficit as a phenotype for genetic investigation of schizophrenia

Am J Med Genet. Spring 2000;97(1):58-64. doi: 10.1002/(sici)1096-8628(200021)97:1<58::aid-ajmg8>;2-y.


Many investigators have proposed that biological endophenotypes might facilitate the genetic analysis of schizophrenia. A deficit in the inhibition of the P50 evoked response to repeated auditory stimuli has been characterized as a neurobiological deficit in schizophrenia. This deficit is linked to a candidate gene locus, the locus of the alpha7-nicotinic cholinergic receptor subunit gene on chromosome 15q14. Supportive evidence has been found by other investigators, including: 1) linkage of schizophrenia to the same locus; 2) linkage of bipolar disorder to the locus; and 3) replication of the existence of this neurobiological deficit and its relation to broader neuropsychological deficits in schizophrenia. It is certain that there are many genetic factors in schizophrenia and bipolar disorder; what is needed is a complete and precise description of the contribution of each individual factor to the pathophysiology of these illnesses.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, Pair 15
  • Humans
  • Nervous System / metabolism
  • Nervous System / physiopathology*
  • Phenotype
  • Receptors, Nicotinic / genetics
  • Receptors, Nicotinic / metabolism*
  • Schizophrenia / genetics*
  • Schizophrenia / metabolism
  • Schizophrenia / physiopathology*


  • Receptors, Nicotinic