Premium
Heme‐oxygenase 2 ( HMOX2) variants associated with evolutionary adaptation and hemoglobin concentration in Tibetans are common in Andean Highlanders
Author(s) -
Yip Gigi,
Heinrich Erica C.,
Villafuerte Francisco C.,
Simonson Tatum S.
Publication year - 2018
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2018.32.1_supplement.lb413
Subject(s) - biology , altitude (triangle) , hematocrit , population , genetics , effects of high altitude on humans , hemoglobin , gene , single nucleotide polymorphism , zoology , demography , genotype , anatomy , endocrinology , biochemistry , mathematics , geometry , sociology
Andean and Tibetan populations have developed distinct adaptations to high altitude. The heme oxygenase 2 gene ( HMOX2) is under selection in Tibetans and is associated with hemoglobin concentration in Tibetan men. Putatively adaptive variants within this gene are also prevalent in lowland population but have not been examined in Andean highlanders and could influence variation in hypoxia responses in this population. We genotyped ten variants within the HMOX2 gene region (rs2058812, rs2270363, rs6500606, rs3747584, rs4786509, rs860891, rs8129, rs11639998, rs9934267, and rs17761816) in 128 Quechua Andean highlanders in Cerro de Pasco, Peru (4,350 m) (female = 61; male = 67). We found that the frequencies in Andean highlanders are not as elevated as Tibetans' but similar to those observed in Han Chinese. After controlling for sex and age, there was no significant association between these SNPs and hematocrit (Hct), mean arterial pressure (MAP), oxygen saturation (SpO 2 ), nor hypoxic ventilatory response (HVR). These results suggest that the putatively adaptive high‐altitude HMOX2 variants identified in Tibetans are found at intermediate frequencies in Andeans, although they may not be regulators of hemoglobin concentration in this population. This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .