F. Macciardi et al., AN ASSOCIATION STUDY BETWEEN SCHIZOPHRENIA AND THE DOPAMINE-RECEPTOR GENES DRD3 AND DRD4 USING HAPLOTYPE RELATIVE RISK, Human heredity, 44(6), 1994, pp. 328-336
Our work investigates the relationship between genetic factors and sch
izophrenia, seeking to identify a gene or genes associated with the cl
inical form of the disease in a group of Italian patients. In pursuit
of the 'dopaminergic hypothesis' of schizophrenia, we explored a possi
ble etiologic role of two dopamine receptor genes, DRD3 and DRD4, that
have been repeatedly suggested as factors in the pathophysiology of t
he disease. We typed DNA polymorphisms in each of the genes that code
for variation in the amino acid sequence of the receptor protein. An i
nnovative design using parental chromosomes as controls - the 'haploty
pe relative risk' strategy - represents a significant improvement over
previous association studies in psychiatric genetics. Our results sug
gest that, at least in our well-defined population the candidate genes
DRD3 and DRD4 do not appear to play a major role in the genetic etiol
ogy of schizophrenia.