In addition, we associated several CAPN5 haplotypes with phenotypic differences observed between PCOS patients, such as the presence of obesity (AA-CA) and familial antecedents of obesity (AA-CA and GG-CG), hypertension (AA-CA and GG-CG) and hypercholesterolemia (GG-CA). The gene discussed is CAPN5; the disease is obesity due to melanocortin 4 receptor deficiency.