Journal of Korean Medical Science

Korean Acad Medical Sciences (대한의학회)
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Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty

  • Oh, Yeon Joung (Department of Pediatrics, Hallym University College of Medicine) ;
  • Rhie, Young-Jun (Department of Pediatrics, Korea University College of Medicine) ;
  • Nam, Hyo-Kyoung (Department of Pediatrics, Korea University College of Medicine) ;
  • Kim, Hye Ryun (Department of Pediatrics, Korea University College of Medicine) ;
  • Lee, Kee-Hyoung (Department of Pediatrics, Korea University College of Medicine)
  • Received : 2016.05.17
  • Accepted : 2016.09.15
  • Published : 2017.01.10
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Abstract

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.

Keywords

Acknowledgement

Supported by : Korea University, Korean Society of Pediatric Endocrinology

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