Molecular psychiatry · 2022
Genome-wide tandem repeat expansions contribute to schizophrenia risk.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Mojarad Bahareh A, Engchuan Worrawat, Trost Brett, Backstrom Ian, Yin Yue, Thiruvahindrapuram Bhooma, Pallotto Linda, Mitina Aleksandra, Khan Mahreen, Pellecchia Giovanna, Haque Bushra, Guo Keyi, Heung Tracy, Costain Gregory, Scherer Stephen W, Marshall Christian R, Pearson Christopher E, Bassett Anne S, Yuen Ryan K C
Аннотация
Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with schizophrenia and found that they have a higher burden of TREs that are near exons and rare in the general population, compared with non-psychiatric controls. These TREs are disproportionately found at loci known to be associated with schizophrenia from genome-wide association studies, in individuals with clinically-relevant genetic variants at other schizophrenia loci, and in families where multiple individuals have schizophrenia. We showed that rare TREs in schizophrenia may impact synaptic functions by disrupting the splicing process of their associated genes in a loss-of-function manner. Our findings support the involvement of genome-wide rare TREs in the polygenic nature of schizophrenia.