GABBR1 has a HERV-W LTR in its regulatory region – a possible implication for schizophrenia
CEITEC—Central European Institute of Technology, Masaryk University, CZ-62500, Brno, Czech Republic
Institute of Enzymology, Research Centre for Natural Sciences, Hungarian Academy of Sciences, Budapest, Hungary
Biology Direct 2013, 8:5 doi:10.1186/1745-6150-8-5Published: 7 February 2013
Schizophrenia is a complex disease with uncertain aetiology. We suggest GABBR1, GABA receptor B1 implicated in schizophrenia based on a HERV-W LTR in the regulatory region of GABBR1. Our hypothesis is supported by: (i) GABBR1 is in the 6p22 genomic region most often implicated in schizophrenia; (ii) microarray studies found that only presynaptic pathway-related genes, including GABA receptors, have altered expression in schizophrenic patients and (iii) it explains how HERV-W elements, expressed in schizophrenia, play a role in the disease: by altering the expression of GABBR1 via a long terminal repeat that is also a regulatory element to GABBR1.
This paper was reviewed by Sandor Pongor and Martijn Huynen.