PT  - JOURNAL ARTICLE
AU  - David Curtis
AU  - Warren Emmett
TI  - Association study of schizophrenia with variants in miR-137 binding sites
AID  - 10.1101/150409
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 150409
4099  - http://biorxiv.org/content/early/2017/06/15/150409.short
4100  - http://biorxiv.org/content/early/2017/06/15/150409.full
AB  - There is strong cumulative evidence for the involvement of miR-137 and its targets in the aetiology of schizophrenia. Here we test whether variants, especially rare variants, in miR137 binding sites are associated with schizophrenia in an exome-sequenced sample of 4225 cases and 5834 controls. A weighted burden test using 372 variants was significant at p=0.024. The sample size is too small to implicate individual variants or genes but overall this finding provides further support for the hypothesis that disruption of miR-137 binding sites can increase the risk of schizophrenia, perhaps by leading to over-expression of the target gene. These findings could be followed up by genotyping these variants in larger samples and by experimentally testing whether they do indeed effect expression. When carrying out exome sequencing it is important to include UTRs so that disruption of microRNA bindings sites can be detected.