Biomarker for detecting high-altitude adaptation and high-altitude pulmonary edema

摘要

Present invention relates to the Biomarkers for detecting high altitude adaptation and hypoxia responsiveness and the method thereof. The invention specifically relates to the Gene variants SNPIDs rs479200 and rs480902 in the first intron of EGLN1 (Prolyl Hydroxylase 2) gene as biomarkers for adaptation to high altitude and predisposition for high altitude pulmonary edema and hypoxia responsiveness using a novel integrative approach of phenotyping concepts of Ayurveda with population genetics, and disease genomics. More specifically, the C allele of SNP ID rs480902 and T allele of rs479200 of EGLN1 gene is more frequent in patients of HAPE and nearly absent in native highlanders. The present invention also provides primers and methods suitable for the detection of these allelic variants for the prediction of individual's adaptability to high altitude and hypoxia and /or the genetic analysis of the EGLN1 gene in a population.