Detailed Information

Cited 0 time in webofscience Cited 0 time in scopus
Metadata Downloads

Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty

Authors
Oh, Yeon JoungRhie, Young-JunNam, Hyo-KyoungKim, Hye RyunLee, Kee-Hyoung
Issue Date
1월-2017
Publisher
KOREAN ACAD MEDICAL SCIENCES
Keywords
KISS1R Gene; Precocious Puberty; Central; Polymorphism; Timing of Puberty
Citation
JOURNAL OF KOREAN MEDICAL SCIENCE, v.32, no.1, pp.108 - 114
Indexed
SCIE
SCOPUS
KCI
Journal Title
JOURNAL OF KOREAN MEDICAL SCIENCE
Volume
32
Number
1
Start Page
108
End Page
114
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/85131
DOI
10.3346/jkms.2017.32.1.108
ISSN
1011-8934
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.
Files in This Item
There are no files associated with this item.
Appears in
Collections
College of Medicine > Department of Medical Science > 1. Journal Articles

qrcode

Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.

Related Researcher

Researcher Lee, Kee Hyoung photo

Lee, Kee Hyoung
의과대학 (의학과)
Read more

Altmetrics

Total Views & Downloads

BROWSE