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KISS1 gene polymorphisms in Korean girls with central precocious puberty.

Authors
 Young Jun Rhie  ;  Kee Hyoung Lee  ;  Jung Min Ko  ;  Woo Jung Lee  ;  Jung Hyun Kim  ;  Ho Seong Kim 
Citation
 JOURNAL OF KOREAN MEDICAL SCIENCE, Vol.29(8) : 1120-1125, 2014 
Journal Title
 JOURNAL OF KOREAN MEDICAL SCIENCE 
ISSN
 1011-8934 
Issue Date
2014
MeSH
Base Sequence ; Child ; Female ; Genetic Markers/genetics ; Genetic Predisposition to Disease/epidemiology* ; Genetic Predisposition to Disease/genetics* ; Humans ; Kisspeptins/genetics* ; Molecular Sequence Data ; Point Mutation/genetics ; Polymorphism, Single Nucleotide/genetics* ; Prevalence ; Puberty, Precocious/epidemiology* ; Puberty, Precocious/genetics* ; Reproducibility of Results ; Republic of Korea/epidemiology ; Risk Assessment ; Sensitivity and Specificity
Keywords
G-Protein Coupled Receptor-54 ; KISS1 Gene ; Kisspeptins ; Precocious Puberty, Central
Abstract
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 KISS1 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.
Files in This Item:
T201404775.pdf Download
DOI
10.3346/jkms.2014.29.8.1120
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/138521
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