title: The dopamine-related polymorphisms BDNF, COMT, DRD2, DRD3, and DRD4 are not linked with changes in CSF dopamine levels and frequency of HIV infection.
abstract: We showed previously that higher levels in CSF dopamine in HIV patients are associated with the presence of the dopamine transporter (DAT) 10/10-repeat allele which was also detected more frequently in HIV-infected individuals compared to uninfected subjects. In the current study, we investigated further whether other genetic dopamine (DA)-related polymorphisms may be related with changes in CSF DA levels and frequency of HIV infection in HIV-infected subjects. Specifically, we studied genetic polymorphisms of brain-derived neurotrophic factor, catechol-O-methyltransferase, and dopamine receptors DRD2, DRD3, and DRD4 genetic polymorphisms in uninfected and HIV-infected people in two different ethnical groups, a German cohort (Caucasian, 72 individuals with HIV infection and 22 individuals without HIV infection) and a South African cohort (Xhosan, 54 individuals with HIV infection and 19 individuals without HIV infection). We correlated the polymorphisms with CSF DA levels, HIV dementia score, CD4+T cell counts, and HIV viral load. None of the investigated DA-related polymorphisms was associated with altered CSF DA levels, CD4+T cell count, viral load, and HIV dementia score. The respective allele frequencies were equally distributed between HIV-infected patients and controls. Our findings do not show any influence of the studied genetic polymorphisms on CSF DA levels and HIV infection. This is in contrast to what we found previously for the DAT 3'UTR VNTR and highlights the specific role of the DAT VNTR in HIV infection and disease.
authors.affiliation: Institute of Virology and Immunobiology, University of Wuerzburg, Versbacher Str. 7, 97078, Wuerzburg, Germany. anne.horn@uniklinik-freiburg.de.
authors.forename: Anne
authors.initials: A
authors.lastname: Horn
authors.affiliation: Institute of Virology and Immunobiology, University of Wuerzburg, Versbacher Str. 7, 97078, Wuerzburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Scheller
authors.affiliation: Department of Psychiatry, Stellenbosch University, Stellenbosch, South Africa.
authors.forename: S
authors.initials: S
authors.lastname: du Plessis
authors.affiliation: Department of Psychiatry and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Burger
authors.affiliation: Department of Neurology, University Hospital of Duesseldorf, Duesseldorf, Germany.
authors.forename: G
authors.initials: G
authors.lastname: Arendt
authors.affiliation: Department of Psychiatry, University of Cape Town, Cape Town, South Africa.
authors.forename: J
authors.initials: J
authors.lastname: Joska
authors.affiliation: IFTZ, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Sopper
authors.affiliation: Department of Neurology, University Hospital of Duisburg-Essen, Duisburg-Essen, Germany.
authors.forename: C M
authors.initials: CM
authors.lastname: Maschke
authors.affiliation: Department of Neurology, University Hospital of Duisburg-Essen, Duisburg-Essen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Obermann
authors.affiliation: Department of Neurology, University Hospital of Muenster, Muenster, Germany.
authors.forename: I W
authors.initials: IW
authors.lastname: Husstedt
authors.affiliation: Institute of Mathematics and Informatics, Chair of Mathematics VIII (Statistics), University of Wuerzburg, Wuerzburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Hain
authors.affiliation: Center of Mental Health, Clinic and Policlinic of Psychiatry, Psychosomatics and Psychotherapy, University Hospital Wuerzburg, Wuerzburg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Riederer
authors.affiliation: Institute of Virology and Immunobiology, University of Wuerzburg, Versbacher Str. 7, 97078, Wuerzburg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Koutsilieri
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000134:cerebrospinal fluid; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D018791:CD4 Lymphocyte Count; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D015331:Cohort Studies; D004298:Dopamine / Q000134:cerebrospinal fluid*; D005260:Female; D005787:Gene Frequency; D060005:Genotyping Techniques; D005858:Germany; D015658:HIV Infections / Q000134:cerebrospinal fluid* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic; D011954:Receptors, Dopamine / Q000235:genetics*; D012306:Risk; D012720:Severity of Illness Index; D013019:South Africa; D019562:Viral Load
chemical_list: D015415:Biomarkers; D019208:Brain-Derived Neurotrophic Factor; D011954:Receptors, Dopamine; C579455:BDNF protein, human; C588010:COMT protein, human; D002394:Catechol O-Methyltransferase; D004298:Dopamine
keywords: Africa; DAT; Dopamine; Dopamine receptors; HIV; Infection; Polymorphisms