EcoSta 2024: Start Registration
View Submission - EcoSta2024
A0397
Title: Bayesian rare variant analysis identifies novel Schizophrenia putative risk genes from SCHEMA case control sample Authors:  Shengtong Han - Marquette University School of Dentistry (United States) [presenting]
Abstract: The genetics of schizophrenia is so complex that it involves both common variants and rare variants. Rare variant association studies of schizophrenia are challenging because statistical methods for rare variant analysis are underpowered due to the rarity of rare variants. A recent schizophrenia exome meta-analysis (SCHEMA) consortium, the largest consortium to date, has successfully identified ten schizophrenia risk genes from ultra-rare variants by burden test. In contrast, more risk genes remain to be discovered by more powerful rare variant association test methods. A recently developed Bayesian rare variant association method is used, which is powerful for detecting sparse rare variants that implicate new candidate risk genes associated with schizophrenia from the SCHEMA case-control sample. These newly identified genes are significantly enriched in autism risk genes, and GO enrichment analysis indicates that new candidate risk genes are involved in mechanosensory behavior, regulation of cell size, neuron projection morphogenesis, and plasma membrane bounded cell projection morphogenesis, that may provide new insights on etiology of schizophrenia.