R. Freedman et al., Inhibitory neurophysiological deficit as a phenotype for genetic investigation of schizophrenia, AM J MED G, 97(1), 2000, pp. 58-64
Many investigators have proposed that biological endophenotypes might facil
itate the genetic analysis of schizophrenia. A deficit in the inhibition of
the P50 evoked response to repeated auditory stimuli has been characterize
d as a neurobiological deficit in schizophrenia. This deficit is linked to
a candidate gene locus, the locus of the alpha 7-nicotinic cholinergic rece
ptor subunit gene on chromosome 15q14. Supportive evidence has been found b
y other investigators, including: 1) linkage of schizophrenia to the same l
ocus, 2) linkage of bipolar disorder to the locus; and 3) replication of th
e existence of this neurobiological deficit and its relation to broader neu
ropsychological deficits in schizophrenia. It is certain that there are man
y genetic factors in schizophrenia and bipolar disorder; what is needed is
a complete and precise description of the contribution of each individual f
actor to the pathophysiology of these illnesses. (C) 2000 Wiley-Liss, Inc.