There is evidence that pituitary POMC expression in mammals depends on the activity of several distinct binding sites and transcription factors (38). The sequence harboring rs1866146 may be contained in one of these transcription factor binding sites. Additionally, even though a positive association signal in the 3′ region of POMC (represented by rs6713532 and rs1866146) was observed, we cannot exclude the possibility that the association may be driven by a functional polymorphism which is in close LD with these two non-coding variants.
