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Fig. 7 | Genome Medicine

Fig. 7

From: Global genetic analyses reveal strong inter-ethnic variability in the loss of activity of the organic cation transporter OCT1

Fig. 7

Analyses of the variations in the frequencies of loss of OCT1 activity. a Pairwise comparison of the divergences between the populations and between the world regions (the upper panel). The divergences between the populations were shown in terms of pairwise fixation indexes (FST). The deep blue color corresponds to high divergence between the populations / regions (high FST values). We analyzed 62 populations from the 1000 Genomes Project (designated with 1 K) and HGDP-CEPH project (the rest). The populations were stratified in world regions as shown in Table 1. The populations CEU, ASW, MXL, PUR, and CLM from the 1000 Genomes Project were omitted from these analyses due to their highly admixed structure and/or inability to be allocated to a defined world region. b and c Correlation analyses between the loss of OCT1 and geographic distance to Addis Ababa. Shown are all HGDP-CEPH populations (b) and populations outside East Asia and Oceania (c). The distances to Addis Ababa are according to the previously published ones [37]. Shown are Pearson’s correlation coefficients. The number of populations analyzed were 50 in (b) and 32 in (c). d and e Correlation analyses between the loss of OCT1 and of OATP1B1 activity in HGDP-CEPH populations. Shown are all populations (d) and populations outside Asia and Oceania (e). Loss of OATP1B1 activity is represented as the presence of the C-allele of the c. 521 T > C polymorphism. The carrier of the C-allele were estimated from the population data of Pasanen et al. [30] assuming Hardy-Weinberg distribution of the genotypes within each population. Shown are Pearson’s correlation coefficients. The number of populations analyzed were 52 and 24 in (d) (e), respectively

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