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Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets

Figure 2

Regional plots illustrating conditional analyses of loci with more than one independent association signal for serum B12 (CUBN, TCN1 and TCN2) or serum folate (MTHFR).

Genotyped and imputed SNVs passing quality control measures in the Icelandic data are plotted with their P-values (as −log10 values) as a function of genomic position (NCBI Build 36). Only SNVs with P<10−5 in at least one of the models are shown. The analyses were performed in 25,960 and 20,717 chip-genotyped Icelanders for B12 and folate, respectively. Data points illustrated by open circles represent unconditional analyses (M0); blue dots are results of analyses conditional on the most significant SNV in M0 (M1) and orange dots are results of analyses conditional on most significant SNVs in M0 and M1. Estimated recombination rates (HapMap CEU) are plotted to reflect the local LD structure. Gene annotations were obtained from RefGene.

Figure 2

doi: https://doi.org/10.1371/journal.pgen.1003530.g002