Ultimately, 4 SNPs (EGLN1-rs2153364, EPAS1-rs6756667, VEGFA-rs3025039 and PPARA-rs7292407) were found to be associated with the risk of developing AMS, even after adjusted by age, BMI and smoking status, as well as the results after FDR correction. The gene discussed is PPARA; the disease is ablepharon macrostomia syndrome.