Our analysis revealed that rare deleterious variants in the DBD and LBD of the NR5A1/SF-1 gene were associated with a higher risk of obesity (sex combined: OR = 1.061, [1.01, 1.106], P = .015, N = 344), particularly in women (OR = 1.057, [1.034, 1.163], P = 3.87 × 10−3, N = 176), but not in men (OR = 1.019, [0.955, 1.088], P = .57, N = 168) (Supplementary Table S5) [44]. The gene discussed is NR5A1; the disease is obesity due to melanocortin 4 receptor deficiency.