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Chunk #39 — Results — GWAS summary data-based analysis

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RNA alternative splicing impacts the risk for alcohol use disorder.
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To test the reproducibility of the genetically inheritable effect of the ELOVL7 SE event on AUD, we performed additional analyses in four large-scale AUD-related GWAS datasets (PGC, MVP, UKB, and GSCAN), using Generalized Summary data-based Mendelian Randomization (GSMR) [43]. Using CMC as the training set, GSMR inferred the causality of the ELOVL7 SE event on four AUD-related traits: DSM-IV alcohol dependence, ICD-10 AUD diagnosis, AUDIT-P, and drinks per week (Fig. 3G–J). These results showed significant causality in each GWAS dataset, indicating that the splicing regulation of ELOVL7 likely plays an important role in the genetic basis of AUD.