title: 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)).
abstract: We determined allele frequencies for polymorphisms at several loci of interest in neuropsychiatry-tryptophan hydroxylase (TPH), dopamine transporter protein (SLC6A3), D3 dopamine receptor (DRD3), apolipoprotein E (APOE), ciliary neurotrophic factor (CNTF), and the mu opioid receptor (OPRM1)-in samples of individuals from populations in several different parts of the world. Associations with psychiatric illness have been proposed for specific polymorphisms at TPH (suicide-related behaviors and impulsivity), DRD3 (schizophrenia and bipolar affective disorder), 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 significant allele frequency variation among populations at all six loci. These results will provide a global framework of normal variation at these loci that might have functional significance or otherwise be related to susceptibility to various disorders or behavioral phenomena. Knowledge of this variation can be important for study design and data interpretation when individuals from various population groups are research subjects and may eventually help lead to a better understanding of behavioral adaptation.
authors.affiliation: Department of Psychiatry, VA Connecticut Healthcare System, West Haven Campus, West Haven, Connecticut, 06516, USA. gelernter-joel@cs.yale.edu
authors.forename: J
authors.initials: J
authors.lastname: Gelernter
authors.forename: H
authors.initials: H
authors.lastname: Kranzler
authors.forename: J
authors.initials: J
authors.lastname: Lacobelle
mesh_terms: D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D020934:Ciliary Neurotrophic Factor; D050483:Dopamine Plasma Membrane Transport Proteins; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D017448:Receptors, Dopamine D2 / Q000235:genetics; D050637:Receptors, Dopamine D3; D017450:Receptors, Opioid, mu / Q000235:genetics; D014365:Tryptophan Hydroxylase / Q000235:genetics
chemical_list: D001057:Apolipoproteins E; D002352:Carrier Proteins; D020934:Ciliary Neurotrophic Factor; C493593:DRD3 protein, human; D050483:Dopamine Plasma Membrane Transport Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D017448:Receptors, Dopamine D2; D050637:Receptors, Dopamine D3; D017450:Receptors, Opioid, mu; C493214:SLC6A3 protein, human; D014365:Tryptophan Hydroxylase