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Updated: Dec 11, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Genetic analysis of the NR2E1 gene as a candidate gene of schizophrenia
Yu-Yuan Wang1, Shih-Hsin Hsu1, Hsin-Yao Tsai1
1Department of Psychiatry, Yuli Branch, Taipei Veterans General Hospital, Hualien County, 981, Taiwan.
Abstract:
NR2E1 is implicated in the regulation of neurogenesis and considered as a candidate gene for schizophrenia. We resequenced all the exons of NR2E1 in 547 patients with schizophrenia and 567 controls from Taiwan. We identified five common SNPs with no association with patients with schizophrenia. Further haplotype-based association analysis showed that two haplotypes within NR2E1 were correlated with the schizophrenia risk. Four rare mutations located at untranslated regions were identified in patients with schizophrenia but not in our control sample. The present study suggests that NR2E1 is likely to play a significant role in conferring susceptibility to schizophrenia.
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