title: KISS1 gene polymorphisms in Korean girls with central precocious puberty.
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.
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Young-Jun
authors.identifier: 0000-0002-1250-6469
authors.initials: YJ
authors.lastname: Rhie
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Kee-Hyoung
authors.identifier: 0000-0002-4319-9019
authors.initials: KH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.identifier: 0000-0002-0407-7828
authors.initials: JM
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Institute of Endocrinology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Woo Jung
authors.identifier: 0000-0001-7347-2605
authors.initials: WJ
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Institute of Endocrinology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Jung Hyun
authors.identifier: 0000-0001-8659-8135
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Institute of Endocrinology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Ho-Seong
authors.identifier: 0000-0003-1135-099X
authors.initials: HS
authors.lastname: Kim
mesh_terms: D001483:Base Sequence; D002648:Child; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D059648:Kisspeptins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D011629:Puberty, Precocious / Q000453:epidemiology* / Q000235:genetics*; D015203:Reproducibility of Results; D056910:Republic of Korea / Q000453:epidemiology; D018570:Risk Assessment; D012680:Sensitivity and Specificity
chemical_list: D005819:Genetic Markers; C106628:KISS1 protein, human; D059648:Kisspeptins
keywords: G-Protein Coupled Receptor-54; KISS1 Gene; Kisspeptins; Precocious Puberty, Central