title: Homozygosity of the interleukin-10 receptor 1 G330R allele is associated with schizophrenia.
abstract: Infections of unknown origin and an altered immune response have been hypothesized to play a role in the pathogenesis of schizophrenia. We have previously identified two single nucleotide polymorphisms (SNPs) of the IL-10 receptor 1 (IL-10R1) causing a substitution of glycine 330 to arginine (G330R) and of serine 138 to glycine (S138G). A possible association between these IL-10R1 variants and schizophrenia has been investigated in the present study. DNA of 101 unrelated Austrian patients with a DSM-III-R (Diagnostic and Statistical Manual of Mental Disorders) consensus diagnosis of schizophrenia (n = 70) or schizoaffective disorder (n = 31) and DNA of 121 German schizophrenic patients (DSM-III-R) was analyzed for the presence of S138G and G330R by allele-specific multiplex PCRs. Data from patients were compared with 250 unrelated, psychiatric healthy controls. No difference in allele frequency was detected between patients and controls (G330R: 34.0% vs. 30.0%, P = 0.208; S138G: 19.7% vs. 16.6%, P = 0.235; by Fisher's exact test). However, there was a significant difference in genotype distribution (wt/wt, wt/mut, mut/mut) for G330R between patients (46.8%, 38.3%, 14.9%) and controls (47.6%, 44.8%, 7.6%; Fisher's test P = 0.032). No such difference was seen for S138G. Our results suggest that homozygosity of the IL-10R1 G330R allele is associated with schizophrenia and may contribute to the expression of disease phenotype in susceptible individuals.
authors.affiliation: Department of General Psychiatry, University Hospital for Psychiatry, Medical University Vienna, Vienna, Austria.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Schosser
authors.forename: Harald N
authors.initials: HN
authors.lastname: Aschauer
authors.forename: Dieter B
authors.initials: DB
authors.lastname: Wildenauer
authors.forename: Sibylle G
authors.initials: SG
authors.lastname: Schwab
authors.forename: Margot
authors.initials: M
authors.lastname: Albus
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Monika
authors.initials: M
authors.lastname: Schloegelhofer
authors.forename: Friedrich
authors.initials: F
authors.lastname: Leisch
authors.forename: Kurt
authors.initials: K
authors.lastname: Hornik
authors.forename: Sarah S
authors.initials: SS
authors.lastname: Murray
authors.forename: Christoph
authors.initials: C
authors.lastname: Gasche
mesh_terms: D000483:Alleles; D001120:Arginine / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006720:Homozygote; D006801:Humans; D053709:Interleukin-10 Receptor alpha Subunit / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D053709:Interleukin-10 Receptor alpha Subunit; D001120:Arginine; D005998:Glycine