Authors
Helen M Knight, Benjamin S Pickard, Alan Maclean, Mary P Malloy, Dinesh C Soares, Allan F McRae, Alison Condie, Angela White, William Hawkins, Kevin McGhee, Margaret van Beck, Donald J MacIntyre, John M Starr, Ian J Deary, Peter M Visscher, David J Porteous, Ronald E Cannon, David St Clair, Walter J Muir, Douglas HR Blackwood
Publication date
2009/12/11
Journal
The American Journal of Human Genetics
Volume
85
Issue
6
Pages
833-846
Publisher
Elsevier
Description
Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics and genome-wide association studies suggest an overlap of genetic risk factors between these illnesses but it is unclear how this genetic component is divided between common gene polymorphisms, rare genomic copy number variants, and rare gene sequence mutations. We report evidence that the lipid transporter gene ABCA13 is a susceptibility factor for both schizophrenia and bipolar disorder. After the initial discovery of its disruption by a chromosome abnormality in a person with schizophrenia, we resequenced ABCA13 exons in 100 cases with schizophrenia and 100 controls. Multiple rare coding variants were identified including one nonsense and nine missense mutations and compound heterozygosity …
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