Objective: To test the hypothesis that the polymorphisms in EDNRA gene are associated with the susceptibility to high-altitude polycythemia (HAPC) in Tibetans at the Qinghai-Tibetan Plateau in China.
Methods: We enrolled 63 Tibetan HAPC patients and 131 healthy, age-and gender-matched control Tibetans. All subjects came from Yushu area of Qinghai where the altitude was over 3,500 meters. Five SNPs of EDNRA gene (rs10003447, rs1801708, rs2048894, rs5335 and rs6841581) were genotyped by the Sequenom MassARRAY SNP assays.
Results: None of five SNPs in EDNRA gene were associated with HAPC risk (P=0.742; P=0.733; P=0.828; P=0.417; P=0.096).
Conclusion: EDNRA gene is likely to have adaptive benefits for high altitude environment. However, it is not protective against HAPC in Tibetans.