Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis.

The strongest signal according to the PP4/PP3 was identified for rs2453555 at 9p21.2 (PP4/PP3 = 82.5), which was highly significantly associated with ALS risk (GWAS p = 6.5 × 10 −30 ), and at the same time served as a highly significant eQTL of C9orf72 in the pituitary gland (eQTL p = 4.4 × 10 −12 ), strongly suggesting a causal relationship ( Figure 3B ).

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We identified 13 brain regions and pituitary with nominally significant association with ALS–gene associations ( p < 0.05), and two regions showed significance after Bonferroni correction: cerebellum ( p = 2.7 × 10 −5 ) and cerebellar hemisphere ( p = 1.3 × 10 −4 ) ( Supplementary Figure S2 ).

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