| Gene . | Function . | Associated phenotype . | Main selection method . | Population . | Date . | Putative selective factor . | References . |
|---|---|---|---|---|---|---|---|
| yr | |||||||
| LCT | Glycoside hydrolase | Lactose tolerance | Haplotype homozygosity | Europeans | ∼7,000–11,000 | Dairy farming | Enattah 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 | ||||||
| EDAR | Cell surface receptor for ectodysplasin A | Hair straightness, changes of epidermal appendages | Haplotype homozygosity | East Asians | ∼10,000 | Thermo-regulation | Sabeti et al., 2007; Barreiro et al., 2008; Bryk et al., 2008; Tan et al., 2013 |
| SLC24A5 | Potassium-dependent sodium/calcium exchanger | Light skin color | Haplotype homozygosity | Europeans | ∼18,700 | Low environmental UV radiation exposure | Lamason et al., 2005; Barreiro et al., 2008; Beleza et al., 2013 |
| EPAS1 | Hypoxia-inducible factor | Response to hypoxic challenge | Haplotype homozygosity | Tibetans | ∼18,200 | Altitude-induced hypoxia | Simonson et al., 2010; Yi et al., 2010; Peng et al., 2011 |
| G6PD | Pentose monophosphate shunt of glycolysis | Resistance to malaria | Haplotype homozygosity | Africans | ∼3,800–11,700 | Plasmodium falciparum/vivax | Ruwende et al., 1995; Tishkoff et al., 2001; Saunders et al., 2002; Louicharoen et al., 2009 |
| Southeast Asians | ∼1,500 | ||||||
| DARC | Duffy antigen receptor for chemokines | Resistance to malaria | Population differentiation | Africans | ∼33,000 | Plasmodium vivax | Hamblin and Di Rienzo, 2000; Hamblin et al., 2002 |
| CD36 | Membrane protein | Resistance to malaria | Composite statistics; population differentiation | Africans | ∼3,900 | Plasmodium falciparum | Newbold et al., 1999; Ayodo et al., 2007; Fry et al., 2009; Bhatia et al., 2011; Deschamps et al., 2016 |
| TLR1 | Pathogen recognition receptor | Lower inflammatory response | Composite statistics; haplotype homozygosity | Europeans | ∼11,000 | ? | Barreiro et al., 2009; Deschamps et al., 2016 |
| Gene . | Function . | Associated phenotype . | Main selection method . | Population . | Date . | Putative selective factor . | References . |
|---|---|---|---|---|---|---|---|
| yr | |||||||
| LCT | Glycoside hydrolase | Lactose tolerance | Haplotype homozygosity | Europeans | ∼7,000–11,000 | Dairy farming | Enattah 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 | ||||||
| EDAR | Cell surface receptor for ectodysplasin A | Hair straightness, changes of epidermal appendages | Haplotype homozygosity | East Asians | ∼10,000 | Thermo-regulation | Sabeti et al., 2007; Barreiro et al., 2008; Bryk et al., 2008; Tan et al., 2013 |
| SLC24A5 | Potassium-dependent sodium/calcium exchanger | Light skin color | Haplotype homozygosity | Europeans | ∼18,700 | Low environmental UV radiation exposure | Lamason et al., 2005; Barreiro et al., 2008; Beleza et al., 2013 |
| EPAS1 | Hypoxia-inducible factor | Response to hypoxic challenge | Haplotype homozygosity | Tibetans | ∼18,200 | Altitude-induced hypoxia | Simonson et al., 2010; Yi et al., 2010; Peng et al., 2011 |
| G6PD | Pentose monophosphate shunt of glycolysis | Resistance to malaria | Haplotype homozygosity | Africans | ∼3,800–11,700 | Plasmodium falciparum/vivax | Ruwende et al., 1995; Tishkoff et al., 2001; Saunders et al., 2002; Louicharoen et al., 2009 |
| Southeast Asians | ∼1,500 | ||||||
| DARC | Duffy antigen receptor for chemokines | Resistance to malaria | Population differentiation | Africans | ∼33,000 | Plasmodium vivax | Hamblin and Di Rienzo, 2000; Hamblin et al., 2002 |
| CD36 | Membrane protein | Resistance to malaria | Composite statistics; population differentiation | Africans | ∼3,900 | Plasmodium falciparum | Newbold et al., 1999; Ayodo et al., 2007; Fry et al., 2009; Bhatia et al., 2011; Deschamps et al., 2016 |
| TLR1 | Pathogen recognition receptor | Lower inflammatory response | Composite statistics; haplotype homozygosity | Europeans | ∼11,000 | ? | Barreiro et al., 2009; Deschamps et al., 2016 |