title: Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty.
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.
authors.affiliation: Department of Pediatrics, Hallym University College of Medicine, Seoul, Korea.
authors.forename: Yeon Joung
authors.identifier: http://orcid.org/0000-0002-1664-8480
authors.initials: YJ
authors.lastname: Oh
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Young Jun
authors.identifier: http://orcid.org/0000-0002-1250-6469
authors.initials: YJ
authors.lastname: Rhie
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Hyo Kyoung
authors.identifier: http://orcid.org/0000-0003-1512-2062
authors.initials: HK
authors.lastname: Nam
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Hye Ryun
authors.identifier: http://orcid.org/0000-0002-6199-3654
authors.initials: HR
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea. khlee218@kumc.or.kr.
authors.forename: Kee Hyoung
authors.identifier: http://orcid.org/0000-0002-4319-9019
authors.initials: KH
authors.lastname: Lee
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D002648:Child; D005091:Exons; D005260:Female; D005640:Follicle Stimulating Hormone / Q000032:analysis; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D007986:Luteinizing Hormone / Q000032:analysis; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011629:Puberty, Precocious / Q000175:diagnosis / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D000074502:Receptors, Kisspeptin-1; D056910:Republic of Korea
chemical_list: C118688:KISS1R protein, human; D043562:Receptors, G-Protein-Coupled; D000074502:Receptors, Kisspeptin-1; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: Central; KISS1R Gene; Polymorphism; Precocious Puberty; Timing of Puberty