Signals of positive selection and association with height on chromosome 3 between 45 and 60 Mb.
Domain:
healthcareRecord type:
A) Results from FST (Black) and Pygmy LSBL (Red) analysis. The region between ∼50 and 52 Mb contains the largest concentration in the genome of SNPs with scores in the 0.1% tail of the empirical distribution and contains the positional candidate genes CISH, MAPKAP3, and DOCK3. B) Results from XP-EHH analysis. Scores depicted in red show negative values indicating a signal in the Bantu samples, and scores in green show positive values indicating a signal in the Pygmy samples. C) Results from iHS analysis in the Bantu samples. D) Results from iHS analysis in the Pygmy samples. E) Results of association analysis for height (cm) using EMMAX with sex as a covariate. Two suggestive associations are evident. The first, at ∼46.5 Mb, occurs within the coding region of LRRC2. The second is a strong enrichment of association signals between ∼49.5 and 51 Mb directly corresponding to Pygmy-specific signals of positive selection in A–D, centered on the three positional candidates CISH, MAPKAP3 and DOCK3.