Besides Caucasians, a sequencing study in 528 Japanese subjects revealed a high level of polymorphisms in the 5′-flanking region of the CART gene housing the putative promoter region, wherein specific polymorphic sites or variants in linkage disequilibrium with each other were identified to associate with genetic predisposition to obesity (Yamada et al., 2002). Here, CARTPT is linked to obesity due to melanocortin 4 receptor deficiency.