Stopkova Pavla, Vevera Jan, Paclt Ivo, Zukov Ilja, Papolos Demitri F, Saito Takuya, Lachman Herbert M
Department of Psychiatry and Behavioral Sciences, Division of Psychiatry Research, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Psychiatr Genet. 2005 Sep;15(3):223-7. doi: 10.1097/00041444-200509000-00015.
To analyze the promoter region of PIP5K2A, a phosphatidylinositol 4-phosphate 5-kinase that maps to 10p in a region linked to both bipolar disorder and schizophrenia.
The promoter region was screened by single-strand conformation polymorphism analysis and DNA sequencing. Allele frequencies were determined in a case-control study. Functional significance of a promoter variant was determined by electromobility gel shift assays.
Homozygosity for a rare putative promoter variant, -1007C-->T, was found in only two patients with schizophrenia and in no controls or bipolar patients. The variant forms a 7/8 base match for the binding site of Oct-1, a member of the POU homeodomain family. Electromobility gel shift assays revealed increased binding of a brain-specific nuclear protein to the -1007T allele compared with -1007C.
The data suggest that homozygosity for -1007T could be a rare genetic factor in the development of schizophrenia.
