Supplementary Figure 2: Geographic distribution of rs4731702 in the Human Genome Diversity Panel. | Nature Genetics

Supplementary Figure 2: Geographic distribution of rs4731702 in the Human Genome Diversity Panel.

From: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Supplementary Figure 2: Geographic distribution of rs4731702 in the Human Genome Diversity Panel.

The ancestral T2D risk allele C is colored in orange, the derived allele T in blue. Figure generated from the HGDP Selection Browser at the Pritchard Lab (http://hgdp.uchicago.edu/cgi-bin/gbrowse/HGDP/). rs4731702 does not display evidence of positive selection in the HGDP – with global FST in the 80th percentile genome-wide and non-significant iHS and XP-EHH scores in all populations71. Tests for recent positive selection at rs4731702 in samples from the United Kingdom using the Singleton Density Score (SDS) were not significant (P=0.20), but the trend was towards a recent increase of the non-risk allele T72. By contrast, the KLF14 transcript does exhibit evidence of intolerance to variation in the ExAC exome aggregation dataset73 (ExAC constraint scores: Missense z= 2.32; Synonymous z = 2.41) suggesting coding changes in KLF14 are under purifying selection

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