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- W4387496664 abstract "Tourette syndrome (TS) is a complex childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal tic lasting for more than a year. Genome-wide association studies (GWAS) of TS have identified different genome-wide significant loci; however, determining the biological mechanisms of the GWAS findings remains challenging. We applied the summary data-based Mendelian randomization (SMR) method integrating summary statistics of the largest GWAS on TS to date (13,247 TS cases and 536,217 controls), and expression quantitative trait loci (eQTL) data to identify genes that are causally associated with TS. We performed separate SMR analyses using GTEx v8, BrainMeta, and CAGE eQTL data. Additionally, we analyzed methylation quantitative trait loci (mQTL) from Brain-mMeta. We identified 9 genes with significant association, after Bonferonni correction within each tissue, with TS in the GTEx eQTL data. Two of these (NCKIPSD p=5.23 × 10-8; WDR6 p=2.04 × 10-7) were also significant based on analysis of the BrainMeta eQTL dataset, while RERE (p=3.58 × 10-6) and NCKIPSD (p=4.40 × 10-7) were also significant in the CAGE eQTL data. mQTL analysis showed a significant association with P4HTM (p=2.01 × 10-7). We identified several genes causally associated with TS by integrating different eQTL and mQTL data. Our findings point to novel risk loci. Overall our analysis provides new insights into the genetic architecture of TS, and further functional analyses could help to better understand their roles and reveal potential treatment targets. TS GWAS3 Working Group" @default.
- W4387496664 created "2023-10-11" @default.
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- W4387496664 date "2023-10-01" @default.
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- W4387496664 title "W49. MENDELIAN RANDOMIZATION ANALYSIS OF THE LARGEST TOURETTE SYNDROME GWAS TO DATE IDENTIFIES CAUSAL ASSOCIATION WITH NOVEL GENES" @default.
- W4387496664 doi "https://doi.org/10.1016/j.euroneuro.2023.08.237" @default.
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