The rs10487505 variant (MAF 49%) is located 21 kb fromLEP (Fig. 2a) and is in modest linkagedisequilibrium (LD) (r2=0.4,D′=0.8) with the A19G (rs2167270, MAF35%) variant that has been extensively studied in candidate genestudies but whose associations with increased levels of leptin and obesity havebeen inconclusive13, 16. The gene discussed is LEP; the disease is obesity due to melanocortin 4 receptor deficiency.