Fig. 5

Enrichment of chylomicron-mediated lipid transport pathway informs a strong association between a member gene MTTP and levels of low-density lipoprotein (LDL) cholesterol. a Distribution of GWAS single-SNP z-scores from summary data published in 2010⁴¹, stratified by gene set annotations. The solid green curve is estimated from z-scores of SNPs within 100 kb of the transcribed region of genes in the chylomicron-mediated lipid transport pathway (“inside”), and the dashed reddish purple curve is estimated from z-scores of remaining SNPs (“outside”). This panel serves as a visual sanity check to confirm the observed enrichment. b Estimated posterior probability (P₁) that there is at least one associated SNP within 100 kb of the transcribed region of each pathway-member gene under the enrichment model (M₁) versus estimated P₁ under the baseline model (M₀). These gene-level P₁ estimates and corresponding SNP-level statistics are provided in Supplementary Table 4. Yellow asterisks denote genes that are less than 1 Mb away from a GWAS hit. Blue circles denote genes that are at least 1 Mb away from any GWAS hit. c Regional association plot for MTTP based on summary data published in 2010⁴¹. d Regional association plot for MTTP based on summary data published in 2013⁴²