KISS1 gene polymorphisms in Korean girls with central precocious puberty

Young Jun Rhie, Kee Hyoung Lee, Jung Min Ko, Woo Jung Lee, Jung Hyun Kim, Ho Seong Kim

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)


Kisspeptin/G-protein couple receptor-54 (GPR54) system plays a key role in the activation of the gonadotropic axis at puberty. Central precocious puberty (CPP) is caused by the premature activation of hypothalamic gonadotropin-releasing hormone secretion. This study was aimed to identify KISS1 gene variations and to investigate the associations between KISS 1 gene variations and CPP in Korean girls. All coding exons of KISS1 gene were sequenced in Korean girls with CPP (n=143) and their healthy controls (n=101). Nine polymorphisms were identified in KISS1 gene. A novel single-nucleotide polymorphism (SNP), 55648176 T/G, was identified for the first time. SNP 55648184 C/G and 55648186 -/T were detected more frequently in CPP group than in control group. SNP 55648176 T/G was detected less frequently in CPP group than in control group. Haplotype GGGC-ACCC was detected less frequently in CPP group. The genetic variations of KISS1 gene can be contributing factors of development of CPP. The association between the gene variations and CPP should be validated by further evidence obtained from large-scaled and functional studies.

Original languageEnglish
Pages (from-to)1120-1125
Number of pages6
JournalJournal of Korean medical science
Issue number8
Publication statusPublished - 2014
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2014 The Korean Academy of Medical Sciences.


  • G-protein coupled receptor-54
  • KISS1 gene
  • Kisspeptins
  • Precocious puberty, central

ASJC Scopus subject areas

  • General Medicine


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