Signals of recent positive selection in a worldwide sample of human populations

TLDR

Genome‑wide scans for recent positive selection in humans have revealed mechanisms underlying phenotypic diversity, yet they have largely focused on a limited number of populations. The study analyzes recent selection across 53 global populations using genotype data from the Human Genome Diversity‑CEPH Panel. The analysis employs this panel’s genotype data to assess selection patterns across the sampled populations. The results refine selective sweep distributions, showing strong intra‑continental overlap but limited inter‑continental overlap, identify new candidate targets such as NRG–ERBB4 pathway genes in non‑African populations, reveal selection on loci linked to type II diabetes susceptibility, and highlight local adaptation between geographically close populations.

Abstract

Genome-wide scans for recent positive selection in humans have yielded insight into the mechanisms underlying the extensive phenotypic diversity in our species, but have focused on a limited number of populations. Here, we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel. We refine the geographic distributions of known selective sweeps, and find extensive overlap between these distributions for populations in the same continental region but limited overlap between populations outside these groupings. We present several examples of previously unrecognized candidate targets of selection, including signals at a number of genes in the NRG–ERBB4 developmental pathway in non-African populations. Analysis of recently identified genes involved in complex diseases suggests that there has been selection on loci involved in susceptibility to type II diabetes. Finally, we search for local adaptation between geographically close populations, and highlight several examples.