GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

In our pediatric cohorts, the association of rs1260326 and rs780094 in GCKR was borderline significant ( p = 0.006, OR = 1.40, 95% CI 1.1–1.78).

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Additionally, in NAS score analysis in this region, we detected a novel eQTL marker for HSD17B13 (rs3923441) that was nominally significant with NAS score ( p = 0.008, beta = 0.55) (Additional file 1 : Table S3) and produced a PheWAS effect for abnormal liver enzyme levels (see the “ PheWAS approach ” section).

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The weighted genetic risk score (GRS) was also calculated using PLINK-score function by multiplying each β -coefficient of highly significant SNPs with the number of corresponding risk alleles (0, 1, or 2) and then summing the products ( [ 26 ].

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