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Article

A causal coding variant regulating alternative splicing of DOC2A at 16p.11.2 GWAS locus influences susceptibility to schizophrenia.

Science advances - 16 Jan 2026

Zhou Danyang, Zhang Yue, Yang Zhihui, Zhang Chuyi, Zhang Qing, Huo Jinhua, Cui Kesi, Wu Yong, Chang Hong, Wang Chuang, Xiao Xiao, Cai Xin, Li Ming

Abstract excerpt

Although genome-wide association studies (GWASs) have identified many schizophrenia-associated variants, their biological mechanisms remain unclear. Using transcriptomic data from human brain tissues, we performed splicing quantitative trait locus (sQTL) analyses of schizophrenia-associated single-nucleotide polymorphisms and identified more than 17,000 sQTLs linked to previously unidentified splicing junctions....

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Identifiers

PMID: 41544168
DOI: 10.1126/sciadv.adw7667
PMCID: PMC12810641

Genes

DOC2A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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