Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6823706 | Schizophrenia Research | 2015 | 6 Pages |
Abstract
Linkage analysis of formal thought disorder resulted in a single peak at chromosome 6(q26-q27) centred on marker D6S1277, with a maximum LOD score of 4.0. Phasing and fine mapping of the linkage peak identified a 5.5 Mb haplotype (chr6:162242322-167753547, hg18) in 31 individuals, all belonging to the same pedigree sharing the haplotype from a common ancestor. The haplotype segregated with increased total thought disorder index score (P = 4.9 Ã 10â 5) and qualitatively severe forms of thought disturbances. Whole genome sequencing identified a novel nucleotide deletion (chr6:164377205 AG > A, hg18) predicted to disrupt the potential binding of the transcription factor MEF2A. The MEF2A binding site is located between two genes previously reported to associate with schizophrenia, QKI (HGNC:21100) and PDE10A (HGNC:8772). The findings are consistent with MEF2A deregulation conferring risk of formal thought disorder.
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Authors
Johan Hilge Thygesen, Sine Katharina Zambach, Andrés Ingason, Pär Lundin, Thomas Hansen, Marcelo Bertalan, Anders Rosengren, Ditte Bjerre, Laura Ferrero-Miliani, Henrik Berg Rasmussen, Josef Parnas, Thomas Werge,