Comparisons of linkage disequilibrium blocks of different populations at the sites of natural selection

Abstract

Linkage disequilibrium structure (LD) is the main source of the study of population genetics and disease-gene association. Especially, analyzing extended long haplotypes carrying a derived allele and examining LD block patterns can provide evidence for positive selection. We investigated the LD block structure of East Asian, European, and African populations for the previously reported sites of positive selection by comparing LD block construction results based on 1000 Genomes Project data. We confirmed that differences of LD block size in EDAR, LCT, PCDH15, and LARGE region among different populations is consistent with previous reports. We found new evidence for positive selection in SLC30A19, PDE11A and BCAS3 in East Asian and European populations based on the LD block patterns.