Evidence of Early-Stage Selection on EPAS1 and GPR126 Genes in Andean High Altitude Populations.

摘要: The aim of this study is to identify genetic variants that harbour signatures recent positive selection and may facilitate physiological adaptations hypobaric hypoxia. To achieve this, we conducted whole genome sequencing lung function tests in 19 Argentinean highlanders (>3500 m) comparing them 16 Native American lowlanders. We developed a new statistical procedure using combination population branch statistics (PBS) number segregating sites by length (nSL) detect beneficial alleles arose since the settlement Andes are currently present 15–50% population. identified two missense as significant targets selection. One these variants, located within GPR126 gene, has been previously associated with forced expiratory volume/forced vital capacity ratio. other novel variant mapped EPAS1 gene encoding hypoxia inducible factor 2α. known be major candidate Tibetans. derived allele our sample (p < 0.05). These contribute hypoxia, possibly altering function. approach might useful tool selected studies.