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. 2019 Aug 28;10:1116. doi: 10.3389/fphys.2019.01116

TABLE 2.

A summary of genetic adaptations reported in the Sherpa, and replication in other population(s) or species.

Genes name(s) Sherpa
Other population(s) or species Reference(s)
Sample Size Reference(s)
ACE 105 Droma et al., 2008 Elite European descent athletes Montgomery et al., 1998; Jones et al., 2002
HIF-la 20 Suzuki et al., 2003
eNOS 105 Droma et al., 2006
EPAS1 105 Hanaoka et al., 2012 Tibetan Beall et al., 2010; Simonson et al., 2010; Yi et al., 2010; Bigham et al., 2010; Peng et al., 2011; Wang et al., 2011; Xu et al., 2011
51 Jeong et al., 2014 Deedu Mongolian Xing et al., 2013
582 Bhandari et al., 2016 Denisovan Huerta-Sánchez et al., 2014
3.4 kb Copy Number Deletion-80 kb downstream of EPAS1 582 Bhandari et al., 2016 Tibetan Lou et al., 2015
EGLN1 51 Jeong et al., 2014 Tibetan Lorenzo, 2010; Simonson et al., 2010; Yi et al., 2010; Xiang et al., 2013; Lorenzo et al., 2014
582 Bhandari et al., 2016 Andean Bigham et al., 2009; Bigham et al., 2010
111 Zhang et al., 2017 Daghestani Pagani et al., 2012
PPARA 15 Horscroft et al., 2017 Tibetan Simonson et al., 2010; Peng et al., 2011
Kinota et al., 2018 (Amhara and Omotic) Ethiopian Scheinfeldt et al., 2012
HYOUI/HMBS 51 Jeong et al., 2014
EPAS1, EGLN1, DLG1, MARCH8, CDCA7L, HEATR5B, EDAR, ZNF644, TTC24, TMEM247, OXR1, ALDH31 111 Zhang et al., 2017
NOS1 111 Zhang et al., 2017 Tibetan (GCH1), Andeans (NOS2) Bigham et al., 2009; [opetwcitep]B20,B59[clotwcitep]Bigham et al., 2010; He et al., 2018
ANGPT1 111 Zhang et al., 2017 Tibetan and grey wolves of TAR, China Jeansson et al., 2011; Wang et al., 2011
EPAS1, EGLN1, RP11-384F7.2 AC068633.1, ZNF53 2, HLA-DOB1/HLA-DPB1 10 Arciero et al., 2018
ANKH 10 Arciero et al., 2018 Pigs of TAR, China Ai et al., 2014
GRB2 10 Arciero et al., 2018 Tibetans Li et al., 2016
Polygeneic Adaptation {Gene subnetworks like the nested integrin associated pathways (i.e., Integrin β-1, Integral α6−β4 and Integrin involved in angiogenesis),CMYB and C-MYC transcription factor pathways} 31 Gnecchi-Ruscone et al., 2017, 2018 Tibetans Gnecchi-Ruscone et al., 2018
EPAS1, EGLN1.CCDC141,PAPOLA, VRK1, C6orf195, CTBP2, TEX36, EDRF1 103 Jeong et al., 2018 Tibetans Jeong et al., 2018