Journal article

Exome array analysis suggests an increased variant burden in families with schizophrenia

Nina S McCarthy, Phillip E Melton, Sarah V Ward, Spencer M Allan, Milan Dragovic, Melanie L Clark, Bharti Morar, Justin P Rubio, John Blangero, Johanna C Badcock, Veraa Morgan, Eric K Moses, Assen Jablensky



The exome array assays rare-but-recurrent, likely deleterious, exonic variants and represents an intermediary between single nucleotide polymorphism (SNP) arrays and sequencing for genetic association studies. Multiplex families with multiple affected individuals may be enriched for disease-associated variants of this class compared to unrelated populations. We present an exome array study of schizophrenia in 99 multiplex families (n=341, including 118 cases) from the Western Australian Family Study of Schizophrenia (WAFSS). Compared to 55,726 individuals from the DIAGRAM sample not selected for schizophrenia, overall allele frequency of exome variants was higher in the WAFSS (P<2.2E-16). Th..

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Awarded by National Health and Medical Research Council Australia

Funding Acknowledgements

This work was supported by National Health and Medical Research Council Australia (APP1064582 to AJ, EKM, NSM, PEM, JCB, VAM 2014-2016), and by The Society for Mental Health Research (SMHR) Postdoctoral Fellowship [to NSM, 2016] and the Medical Research Foundation, Royal Perth Hospital (Small Project Grant to NSM 2015). Support from the Cooperative Research Centre for Mental Health Australia is also gratefully acknowledged.