Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty

Purpose: Central precocious puberty (CPP) is defined as any sign of secondary sexual maturation appears at an age lower than two standard deviations of the mean for the average age. This process is driven by activation of hypothalamic gonadotropin releasing hormone (GnRH) secretion. Many genes expressed in the hypothalamus have been identified to play an important role in the onset and the progression of puberty. In this study, the GNRH1, its receptor (GNRHR), and kisspeptin receptor (GPR54) genes were scanned to investigate sequence alterations and their distribution in Korean girls with CPP. Methods: One hundred and one Korean girls with CPP were recruited as the case group and 51 normal Korean women as the control group. The DNAs were extracted and amplified by polymerase chain reaction (PCR), and the products were sequenced directly. Statistical analyses were performed, and P values of ˂ 0.05 were considered significant. Results: Four polymorphisms were identified; however, no pathological mutation was found. Two of the polymorphisms were previously reported, c.47G ˃ C in GNRH1, and c.1091T ˃ A in GPR54. However, the other two (c.196C ˃ T in GNRH1 and c.546T ˃ C in GNRHR) were novel. There was no polymorphism that was significantly associated with early onset or rapid progression of puberty. Conclusion: Although the size of our study population was relatively small, simple genetic variations in GNRH1, GNRHR, and GPR54 genes are not likely to be a substantial factor directly associated with the onset and progression of puberty. (J Korean Soc Pediatr Endocrinol 2011;16:38-45)