J Korean Soc Pediatr Endocrinol.  2011 Apr;16(1):38-45. 10.6065/jkspe.2011.16.1.38.

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

Affiliations
  • 1Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
  • 2Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. pedhwang@ajou.ac.kr

Abstract

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.

Keyword

Sexual precocity; GNRH1 gene; GNRHR gene; GPR54 gene; Polymorphism

MeSH Terms

DNA
Female
Genetic Variation
Gonadotropin-Releasing Hormone
Humans
Hypothalamus
Piperazines
Polymerase Chain Reaction
Puberty
Puberty, Precocious
Sexual Maturation
DNA
Gonadotropin-Releasing Hormone
Piperazines
Puberty, Precocious
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