Fig. 2: SNP-based associations with the mean ALPS-index and functional annotation.

A Manhattan plot of the genome-wide association study (GWAS) results for the mean ALPS-index in the UKB discovery cohort. The plot shows the −log₁₀-transformed P value of each SNP on the y-axis and base-pair positions along the chromosomes on the x-axis (n = 37,327 individuals). P values shown are two-sided. The dashed line indicates genome-wide significance for the GWAS performed in linear additive regression model (P < 5 × 10⁻⁸). Significant loci are marked as yellow squares and labeled by their lead SNP. B Overview of the sizes of genomic risk loci and the number of variants associated with the mean ALPS-index. C Pie charts showing the distribution of functional consequences of SNPs in LD with genome-wide significant lead SNPs in the discovery GWAS of the mean ALPS-index, the minimum chromatin state across 127 tissue and cell types, and the distribution of RegulomeDB score (a categorical score between 1a and 7, indicating biological evidence of a SNP being a regulatory element, with a low score denoting a higher likelihood of a SNP being regulatory). SNP single nucleotide polymorphism.