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GABBR1 has a HERV-W LTR in its regulatory region – a possible implication for schizophrenia

Hedi Hegyi

Author Affiliations

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:10.1186/1745-6150-8-5

Published: 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.

Schizophrenia; Human endogenous retrovirus; HERV-W; long terminal repeat; LTR; GABA; GABBR1; GABA receptor; Enhancer; Silencer