KISS1 Gene Polymorphisms in Korean Girls with Central Precocious Puberty
Journal of Korean Medical Science
; : 1120-1125, 2014.
Article
em En
| WPRIM
| ID: wpr-141031
Biblioteca responsável:
WPRO
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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Puberdade Precoce
/
Dados de Sequência Molecular
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Sequência de Bases
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Marcadores Genéticos
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Prevalência
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Reprodutibilidade dos Testes
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Sensibilidade e Especificidade
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Mutação Puntual
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Medição de Risco
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Predisposição Genética para Doença
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child
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Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
2014
Tipo de documento:
Article