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2023, Number 2

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Rev Hematol Mex 2023; 24 (2)

Hematological adaptation of Andean dwellers to high altitude

Amaru R, Quispe T, Mamani LF, Mancilla S, Valencia JC, Patón D, Carrasco M

Language: Spanish
References: 32
Page: 52-67
PDF size: 786.74 Kb.


ABSTRACT

Objective: To evaluate the association of EPAS1, EGLN1, PKLR and NFkB1 gene haplotypes between Aymara and Tibetans as well as their relationship to high altitude adaptation.
Materials and Methods: Prospective longitudinal study concerning haplotypes EPAS1 (5 denisovan like SNPs, 5 non-denisovan like SNPs), EGLN1 (PHD2D4E, PHD2C127S), PKLR (7 SNPs) and NFkB1 (2 SNPs) present in Bolivian Andean Aymara and Tibetans. Haplotypes were also classified according to the metabolic pathways in which they take are engaged.
Results: It was observed that Andean Aymaras do not have the denisovan-like EPAS1 and PHD2D4E haplotypes; however, they share 2 out of 5 non-denisovan like EPAS1variants. PHD2C127S is at low prevalence (heterozygous form), PKLR is 50% and NFkB1 is 91%.
Conclusions: Andean Aymaras and Tibetans share haplotypes that can be referred as common genetic patterns, and they also have specific enriched haplotypes. Frequency and interaction of these haplotypes into their signaling pathways suggest a partial and complete hematological adaptation, respectively.


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