POPULATION STUDIES OF POLYMORPHISMS AT LOCI OF NEUROPSYCHIATRIC INTEREST (TRYPTOPHAN-HYDROXYLASE (TPH), DOPAMINE TRANSPORTER PROTEIN (SLC6A3), D3 DOPAMINE-RECEPTOR (DRD3), APOLIPOPROTEIN-E (APOE), MU-OPIOID RECEPTOR (OPRM1), AND CILIARY NEUROTROPHIC FACTOR (CNTF))
J. Gelernter et al., POPULATION STUDIES OF POLYMORPHISMS AT LOCI OF NEUROPSYCHIATRIC INTEREST (TRYPTOPHAN-HYDROXYLASE (TPH), DOPAMINE TRANSPORTER PROTEIN (SLC6A3), D3 DOPAMINE-RECEPTOR (DRD3), APOLIPOPROTEIN-E (APOE), MU-OPIOID RECEPTOR (OPRM1), AND CILIARY NEUROTROPHIC FACTOR (CNTF)), Genomics (San Diego, Calif.), 52(3), 1998, pp. 289-297
We determined allele frequencies for polymorphisms at several loci of
interest in neuropsychiatry-tryptophan hydroxylase (TPH), dopamine tra
nsporter protein (SLC6A3), D3 dopamine receptor (DRD3), apolipoprotein
E (APOE), ciliary neurotrophic factor (CNTF), and the mu opioid recep
tor (OPRM1)-in samples of individuals from populations in several diff
erent parts of the world, Associations with psychiatric illness have b
een proposed for specific polymorphisms at TPH (suicide-related behavi
ors and impulsivity), DRD3 (schizophrenia and bipolar affective disord
er), SLC6A3 (susceptibility to cocaine-induced paranoia and attention
deficit disorder), CNTF (psychosis), and OPRM1 (substance dependence).
APOE alleles are related to risk of Alzheimer disease. We found signi
ficant allele frequency variation among populations at all six loci. T
hese results will provide a global framework of normal variation at th
ese loci that might have functional significance or otherwise be relat
ed to susceptibility to various disorders or behavioral phenomena. Kno
wledge of this variation can be important for study design and data in
terpretation when individuals from various population groups are resea
rch subjects and may eventually help lead to a better understanding of
behavioral adaptation. (C) 1998 Academic Press.