Extended Data Fig. 1: Regional association plots in the CCND3 region.
From: Reduced cyclin D3 expression in erythroid cells protects against malaria
a–d, Association profiles for (a) HbA2 (g/dl); (b) MCV; (c) MCH; and (d) RBC, are shown. The significance of the association (-log10 (P-value), left y axis) for each trait is plotted relative to the genomic positions on the hg19/GRCh37 genomic build (x axis). Symbols reflect genomic functional annotations. SNPs are coloured to reflect their LD with rs112233623 in Sardinians (indicated with a purple dot). Two other variants, rs113267280 and rs9349205, are explicitly marked. Variants circled in grey indicate the 95% summed posterior probability credible set. Association P values were computed in n = 6,824 Sardinian samples using the EPACTS q.emmax() test, a linear mixed model that accounts for sample structure and relatedness; all P values are two-sided. The genome-wide significance threshold is P < 6.9 × 10−9. The plots were drawn using the standalone version of LocusZoom (http://locuszoom.org/).
