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Chunk #26 — Results — Functional Analyses

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A genome wide association study of fast beta EEG in families of European ancestry.
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Braineac indicates that rs2252790 is nominally associated with the mRNA expression of DSE/TSPYL1 (TSPY like 4), and ROS1 (ROS proto-oncogene 1, receptor tyrosine kinase) in several brain regions. Two of these findings survived a Bonferroni multiple test correction (p<5×10−3): rs2252790 is an eQTL for DSE/TSPYL1 expression in hippocampus tissue (p=1.26×10−4) and for ROS1 expression in temporal cortex tissue (p=1.20×10−6). In the GTEx database, rs2252790 is associated with the expression of DSE/TSPYL1, ROS1, NT5DC1, and FRK, with the most robust effects observed for DSE expression (p=8.0×10−20). GeneMANIA indicated that DSE is involved in the following network of genes: DSEL, ACSL4, CPSF3L, HFE, ZEB2, PXN, AHR, MCTP1, TGFBI, FCGR1A, TNS3, TRPM2, SLC27A3, EMR2, TAX1BP3, MRC2, F11R, RND3, MARCKS, CTBP2. These genes are detailed in Table 2 and Figure 3. DAVID indicated that 11/21 of these genes were integral to membrane organization (enrichment score: 1.33, p-value=0.03); however, this enrichment score did not survive a Bonferonni correction (p-value= 0.09).