The pleiotropic effects of neanderthal DNA in present-day Asian populations

Abstract

The aim of this thesis is to study the pleiotropic effects of Neanderthal DNA in present-day Asian populations. To address this research question, Neanderthal variants were scanned for pairwise phenotype associations from GWAS summary statistics from a Japanese cohort and the number of Neanderthal associations were compared to those of 1000 background sets of non-Neanderthal variants. The thesis gives a brief overview of genomics research and Neanderthals, then describes the methods, results, and discusses findings. As a result of this thesis, 10 pairs of phenotypes were identified with significantly higher numbers of Neanderthal associations compared to the background sets, suggesting that Neanderthal DNA is potentially affecting these phenotype pairs in a significant and pleiotropic manner. The results provide new insights into the functional role of Neanderthal DNA in people today.