Table 2.
| Phenotype | Description/neurobiology | Animal model | Heritability estimates | Comment |
|---|---|---|---|---|
| Eye tracking | Smooth pursuit of a target by the eye—involves motion processing (MT, MST), attention (posterior parietal) and predictive oculomotor (frontal eye fields) responses. | None | Depends on the measure used—recent studies with specific measures report high heritability (h2=0.7-0.9).1 | Two independent studies found significant linkage of eye tracking phenotype to loci on chromosome 6p21.2,3 Association with COMT and DRD3 genes reported.4,5 |
| P50 | Sensory gating of the second of paired auditory stimuli. Modulated by nicotinic drugs, as well as adrenergic and 5HT system. | Yes-N40 | Heritability estimate based on a twin study, h2=0.44.6 | A finding of genetic linkage of P50 phenotype at 15q14 (near the location of α 7 nicotinic receptor gene.7,8 |
| PPI | Sensory gating of the startle response to loud sound (pulse) by a muted auditory prepulse. Modulated by several neurotransmitter system including dopamine, glutamatergic, and 5HT. | Yes-PPI | Normal twin studies suggest that about 50% of the variance in PPI can be explained by the genetic factors.9 | Early evidence suggest that the PPI phenotype is distinct from P50. QTL mapping identified loci on mouse chromosome 16.10 |
| Sustained attention | Using a continuous performance task (CPT). | No (?) | Estimated heritability range between 0.48-0.62.11 | Associated with the dopamine transporter gene in ADHD.12 |
| Visual working memory | Neural correlates of oculomotor delayed response task are well described by human imaging and monkey neurophysiological studies. | Yes | Estimated heritability is reported to be ∼0.45 including in families of schizophrenia probands.11 | Preliminary data show an association with DISC1 gene in families of schizophrenia probands.13 |
| Verbal learning and memory | Different measures across studies tapping into this domain. | No | Estimated heritability based on healthy twin studies, h2=0.44. Similar findings in schizophrenia families, h2ranging from 0.21-0.49.11 | Genome-wide data from 168 schizophrenia families suggested a locus for verbal learning and memory on 4q21.14 May be associated with BDNF gene. |
| Brain morphometry | Decreased total brain volume; decreased white matter volume in some tracts; and thalamic volume reductions noted in relatives of schizophrenia probands. | Yes (?) | Heritability estimates for several cortical regions are high (0.80-0.99 based on healthy twin studies).15-17 | Further research with focus on specific brain morphometric measures needed. |
Table 2 Courtesy of gunvant thaker, MD.