Table 1.
Customized gene panel spanning genes involved in the hypothalamic leptin-melanocortin system, their clinical significance in regard to obesity and other metabolic syndromes, and inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and mitochondrial inheritance (Mu). (10, 11, 20–28).
| Gene | Name | Associated phenotypes | Inheritance | REF |
|---|---|---|---|---|
| AGRP | Agouti-related neuropeptide | Late-onset obesity | AD, AR, Mu | (23) |
| LEP | Leptin | Hereditary obesity, hyperphagia | AR | (11, 27) |
| LEPR | Leptin receptor | Obesity and pituitary dysfunction | AR | (22, 27) |
| MC3R | Melanocortin-3 receptor | Metabolic disorders | AD | (28) |
| MC4R | Melanocortin-4 receptor | Obesity, hyperphagia | AD | (10) |
| NPY | Neuropeptide Y | Metabolic disorders, early-onset of type 2 diabetes, obesity | NA | (24) |
| NPY1R | Neuropeptide Y receptor type 1 | Metabolic disorders | NA | (25) |
| NPY5R | Neuropeptide Y receptor type 5 | Dyslipidaemia, insulin resistance | NA | (25) |
| PCSK1 | Pro-protein convertase type 1 | Early-onset obesity, hyperphagia | AR | (26) |
| PCSK2 | Pro-protein convertase type 2 | Type 2 diabetes | NA | (20) |
| POMC | Proopiomelanocortin | Early-onset obesity, adrenal insufficiency | AR | (21) |