Table 2.
Autosomal gene regions acted upon by natural selection in high-altitude populations as identified in studies published from 2004 to 2017
| Andeans | Tibetans | Ethiopians |
|---|---|---|
| BRINP3 (34) | ANGPT1 (151) | ADRBK1 (1) |
| CBS (40) | ||
| EDNRA (14, 16) | CDH13 (151) | ARNT2 (9, 129) |
| EGLN1 (14, 16) | ECE1 (151) | ASF1B (1) |
| ELTD1 (40) | ||
| ET-1 (106) | EGLN1 (14, 61, 116, 134, 151, 163, 167) | BHLHE41 (64) |
| FAM213A (147) | EPAS1 (9, 14, 61, 116, 151, 163, 167) | CBARA1 (129) |
| NOS2 (14, 16, 34) | FOXO1 (151) | CUL3 (1) |
| PRKAA1 (14, 16) | HMOX2 (165) | CORO1B (1) |
| SFTPD (147) | KCTD12 (61) | HLA-DRA (1) |
| TP53 pathway (69) | LEPR (151) | MAPKAPK2 (1) |
| VEGFB (40) | ||
| TBX5 (34) | PPARA (134) | Multiple (CIC, LIPE, PAFAH1B3) (146) |
| PTGIS (61) | THRB (129) | |
| RUNX1 (151) | VAV3 (129) | |
| RYR1 (151) | ||
| TED (93) | ||
| VDR (61) |
Numbers in parentheses are reference citations. ADRBK1, adrenergic beta receptor kinase 1; ANGPT1, angiopoietin 1; ARNT2, aryl hydrocarbon receptor nuclear translocator 2; ASF1B, anti-silencing function 1B histone chaperone; BHLHE41, basic helix-loop-helix family member e41; BRINP3, BMP/retinoic acid inducible neural specific 3; CBARA1, mitochondrial calcium uptake 1; CBS, cystathionine beta-synthase; CDH13, cadherin 13; CIC, capicua transcriptional repressor; CUL3, cullin 3; CORO1B, coronin actin binding protein 1B; ECE1, endothelin converting enzyme 1; EDNRA, endothelin receptor type A; EGLN1, egl-9 family hypoxia-inducible factor 1; ELTD1, latrophilin and seven transmembrane domain-containing protein 1; EPAS1, endothelial PAS domain protein 1; ET-1, endothelin 1; FAM213A, family with sequence similarity 213 member A; FOXO1, forkhead box O1; HLA-DRA, major histocompatibility complex, class II, DR alpha; KCTD12, K+ channel tetramerization domain containing 12; LEPR, leptin receptor; LIPE, lipase E hormone sensitive type; MAPKAPK2, mitogen-activated protein kinase-activated protein kinase 2; NOS2, nitric oxide synthase 2; PAFAH1B3, platelet activating factor acetylhydrolase 1b catalytic subunit 3; PPARA, peroxisome proliferator-activated receptor alpha; PRKAA1, protein kinase AMP-activated, alpha 1 catalytic subunit; PTGIS, prostaglandin I2 synthase; RUNX1, runt related transcription factor 1; RYR1, ryanodine receptor 1; SFTPD, surfactant protein D; SNP, single-nucleotide polymorphism; TBX5, T-box 5; TED, Tibetan enriched deletion; THRB, thyroid hormone receptor beta; TP53, tumor protein p53; VAV3, vav guanine nucleotide exchange factor 3; VDR, vitamin D3 receptor; VEGFB, vascular endothelial growth factor B.