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The genome of modern humans contains 1.5% to 4.0% DNA inherited from interbreeding with Neanderthals some 50,000 years ago. To assess the functional effects of these genes, researchers identified Neanderthal alleles in the genotypic data of 28,416 U.S. adults of European ancestry available from the Electronic Medical Records and Genomics Network
Approximately 135,000 Neanderthal single-nucleotide polymorphisms (SNPs) were defined, of which four had significant phenotypic associations. One of these, a Neanderthal SNP in an intron of P-selectin (SELP) contained several genes directly involved in blood coagulation. This SNP significantly increased the expression of the genes for P-selectin (P=0.005) and factor V (P=0.05) in arteries. In additio…