Table 1. Some iconic cases of positive selection in the human genome
GeneFunctionAssociated phenotypeMain selection methodPopulationDatePutative selective factorReferences
yr
LCTGlycoside hydrolaseLactose toleranceHaplotype homozygosityEuropeans ∼7,000–11,000 Dairy farmingEnattah et al., 2002; Bersaglieri et al., 2004; Tishkoff et al., 2007; Itan et al., 2009; Ranciaro et al., 2014; Mathieson et al., 2015
Africans∼3,000–7,000
EDARCell surface receptor for ectodysplasin AHair straightness, changes of epidermal appendagesHaplotype homozygosityEast Asians∼10,000Thermo-regulationSabeti et al., 2007; Barreiro et al., 2008; Bryk et al., 2008; Tan et al., 2013
SLC24A5Potassium-dependent sodium/calcium exchangerLight skin colorHaplotype homozygosityEuropeans∼18,700Low environmental UV radiation exposureLamason et al., 2005; Barreiro et al., 2008; Beleza et al., 2013
EPAS1Hypoxia-inducible factorResponse to hypoxic challengeHaplotype homozygosityTibetans∼18,200Altitude-induced hypoxiaSimonson et al., 2010; Yi et al., 2010; Peng et al., 2011
G6PDPentose monophosphate shunt of glycolysisResistance to malariaHaplotype homozygosityAfricans ∼3,800–11,700 Plasmodium falciparum/vivaxRuwende et al., 1995; Tishkoff et al., 2001; Saunders et al., 2002; Louicharoen et al., 2009
Southeast Asians∼1,500
DARCDuffy antigen receptor for chemokinesResistance to malariaPopulation differentiationAfricans∼33,000Plasmodium vivaxHamblin and Di Rienzo, 2000; Hamblin et al., 2002
CD36Membrane proteinResistance to malariaComposite statistics; population differentiationAfricans∼3,900Plasmodium falciparumNewbold et al., 1999; Ayodo et al., 2007; Fry et al., 2009; Bhatia et al., 2011; Deschamps et al., 2016
TLR1Pathogen recognition receptorLower inflammatory responseComposite statistics; haplotype homozygosityEuropeans∼11,000?Barreiro et al., 2009; Deschamps et al., 2016