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. 2021 May 21;11:10688. doi: 10.1038/s41598-021-89176-6

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Deleteriousness (CADD) score of locus lead SNPs identified for allometric body-shape indices. (a) waist-to-hip index (WHI_UKB) calibrated for UK Biobank women (n = 282 genomic risk loci with the corresponding locus lead SNPs); (b) a body shape index (ABSI_UKB) calibrated for UK Biobank women (n = 200); (c) hip index (HI_UKB) calibrated for UK Biobank women (n = 171); (d) WHI_UKB for UK Biobank men (n = 97); (e) ABSI_UKB for UK Biobank men (n = 65); (f) HI_UKB for UK Biobank men (n = 75). CADD-Combined Annotation Dependent Depletion; LD-linkage disequilibrium; SNP-single nucleotide polymorphism; red vertical lines-recommended cut-off 12.37 for CADD (the higher the more deleterious)¹²; horizontal line-genome-wide significance cut-off (P = 5*10^–8); left-hand side-CADD for the locus lead SNP of each genomic risk locus, with the proportion above the cut-off; right-hand side-candidate SNPs in strong LD with the locus lead SNP (colour-coded according to r² ≥ 0.6), showing the maximum CADD within the LD block, plotted with the corresponding significance on the y-axis; P_{WHI / ABSI / HI}-P-values for body-shape indices, derived from BOLT-LMM infinitesimal models; (black circle)-marks the locus lead SNP when this is showing the maximum CADD within the corresponding LD block; percentages (top corners)-percentage above the cut-offs for both, CADD and genome-wide significance (all differences between left-hand side and right-hand side proportions were significant at P < 0.0001 when compared with Fisher’s exact test, except for ABSI_UKB in men (P = 0.0008).