Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.
10.3346/jkms.2017.32.1.108
- Author:
Yeon Joung OH
1
;
Young Jun RHIE
;
Hyo Kyoung NAM
;
Hye Ryun KIM
;
Kee Hyoung LEE
Author Information
1. Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
KISS1R Gene;
Precocious Puberty;
Central;
Polymorphism;
Timing of Puberty
- MeSH:
Adolescent;
Amino Acid Substitution;
Child;
Clinical Coding;
Female*;
Gene Frequency;
Genetic Variation*;
Haplotypes;
Humans;
Introns;
Puberty;
Puberty, Precocious*
- From:Journal of Korean Medical Science
2017;32(1):108-114
- CountryRepublic of Korea
- Language:English
-
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.
