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KISS1 gene polymorphisms in Korean girls with central precocious puberty
- Source :
- Journal of Korean Medical Science
- Publication Year :
- 2014
-
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. Graphical Abstract
- Subjects :
- Genetic Markers
medicine.medical_specialty
Molecular Sequence Data
Puberty, Precocious
Biology
Precocious Puberty, Central
Polymorphism, Single Nucleotide
Risk Assessment
Sensitivity and Specificity
Pediatrics
Exon
Kisspeptin
Polymorphism (computer science)
Internal medicine
Republic of Korea
KISS1 Gene
medicine
polycyclic compounds
Prevalence
Precocious puberty
SNP
Humans
Point Mutation
Genetic Predisposition to Disease
G-Protein Coupled Receptor-54
Child
Kisspeptins
Base Sequence
Haplotype
Reproducibility of Results
General Medicine
medicine.disease
Endocrinology
Genetic marker
Female
Original Article
psychological phenomena and processes
Subjects
Details
- ISSN :
- 15986357
- Volume :
- 29
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Journal of Korean medical science
- Accession number :
- edsair.doi.dedup.....a6eed74d6843a1790705d3e0f3f0d29c