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Chunk #12 — Results — Gene-based findings

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Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.
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set-based association test (mBAT-combo), TWAS, PWAS) and showed evidence for colocalization. Only three genes were implicated in the PWAS; of these, CTNND1 was the only gene also implicated in the TWAS. In the PWAS, downregulation of CTNND1 protein expression in the human dorsolateral prefrontal cortex (dlPFC) was significantly associated with OCD risk (\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$Z=-4.49,P=7.11\times {10}^{-6}$$\end{document}Z=−4.49,P=7.11×10−6; Supplementary Table 13), consistent with the downregulation of CTNND1 gene expression in the prefrontal cortex seen in the TWAS (\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$Z=-6.86,P=6.90\times {10}^{-12};$$\end{document}Z=−6.86,P=6.90×10−12; Supplementary Table 10). For a discussion of the overlap between the gene findings with rare coding variants in OCD, see Supplementary Table 6 and Supplementary Note 7.