Title: Comparisons of linkage disequilibrium blocks of different populations for positive selection

Authors: Sun-Ah Kim; Suh-Ryung Kim; Yun Joo Yoo

Addresses: Department of Mathematics Education, Seoul National University, Seoul, South Korea ' Department of Mathematics Education, Seoul National University, Seoul, South Korea ' Department of Mathematics Education, Seoul National University, Seoul, South Korea

Abstract: Linkage disequilibrium (LD) structure is an important aspect of the study of population genetics and disease-gene association. Especially, analysing 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 previously reported sites of positive selection by comparing LD block construction results based on 1000 Genomes Project data. We confirmed that differences in LD block size in EDAR, LCT, PCDH15, and LARGE region among different populations is consistent with previous results regarding positive selection. We found that LD block comparisons can provide additional information for positive selection in regions of SLC30A19, PDE11A, and BCAS3 for East Asian and European populations.

Keywords: positive selection; linkage disequilibrium; haplotype block; 1000 Genomes Project.

DOI: 10.1504/IJDMB.2017.085712

International Journal of Data Mining and Bioinformatics, 2017 Vol.17 No.4, pp.293 - 310

Available online: 05 Aug 2017 *

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