title: [Association of (N251S)-PIP5K2A with schizophrenic disorders: a study of the Russian population of Siberia].
abstract: The phosphatidylinositol-4-phosphate-5-kinase type IIa (PIP5K2A) gene has been proposed as a putative susceptibility gene for schizophrenia on both positional and functional grounds. The association between the (N251S)-PIP5K2A (rs10828317) variant and schizophrenia was found in German and Dutch populations but was not replicated in several other populations. The purpose of the study was to examine whether the previously implicated (N251S)-PIP5K2A variant influences susceptibility to schizophrenia in the Russian population of Siberia. Authors studied 355 patients with schizophrenic disorders from the Russian population of Siberia. The control group consisted of 100 healthy. Results confirm the association of the (N251S)-PIP5K2A (rs10828317) polymorphism with schizophrenia (p=0.04, OR=2.48, 95%CI=1.19--5.17 for the CC genotype). The association can be explained by the inability of mutant kinase to activate the phosphatidylinositol-4,5-biphosphate dependent proteins, including neuronal KCNQ channels and glutamate EAAT3 transporters, which leads to the lack of dopaminergic and glutamatergic control in schizophrenic patients carriers of this mutation.
authors.forename: O Iu
authors.initials: OIu
authors.lastname: Fedorenko
authors.forename: E V
authors.initials: EV
authors.lastname: Rudikov
authors.forename: V A
authors.initials: VA
authors.lastname: Gavrilova
authors.forename: E G
authors.initials: EG
authors.lastname: Boiarko
authors.forename: A V
authors.initials: AV
authors.lastname: Semke
authors.forename: S A
authors.initials: SA
authors.lastname: Ivanova
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015995:Prevalence; D012559:Schizophrenia / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D012800:Siberia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D004247:DNA; C514871:PIP4K2A protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor)