Genetic variations of the KISS1R gene in korean girls with central precocious puberty

Yeon Joung Oh, Young Jun Rhie, Hyo Kyoung Nam, Hye Ryun Kim, Kee Hyoung Lee

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14 Citations (Scopus)


The timing of puberty onset varies greatly among individuals, and much of this variation is modulated by genetic factors. This study aimed to identify the kisspeptin receptor (KISS1R) gene variations and to investigate the associations between these variations and central precocious puberty (CPP). Korean girls with CPP (n=194) and their healthy controls (n=99) were included in this study. The entire coding region and the exon-intron boundaries (exon 1 through 5) of the KISS1R gene were directly sequenced. Seven polymorphisms were identified in the KISS1R gene. A missense change c.1091T > A, and an intron variant c.738+64G > T showed significantly higher allele frequencies in CPP patients than in controls (c.1091T > A: 30.7% vs. 22.2%, P=0.031; c.738+64G > T: 45.6% vs. 35.9%, P=0.023). The missense variant (c.1091T > A) was a nonsynonymous polymorphism that induces amino acid substitution of p.Leu364His. The haplotype CAGTGTC was detected more frequently in the CPP group (P=0.042). The sequence variants of the KISS1R gene can be inducible factors in the development of CPP. The association between sequence variants and CPP should be validated by further evidence obtained from larger samples of children with CPP.

Original languageEnglish
Pages (from-to)108-114
Number of pages7
JournalJournal of Korean medical science
Issue number1
Publication statusPublished - 2017


  • Central
  • KISS1R gene
  • Polymorphism
  • Precocious puberty
  • Timing of puberty

ASJC Scopus subject areas

  • Medicine(all)


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