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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 108 - 114 (7page)
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초록· 키워드
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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.
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등록된 정보가 없습니다.
참고문헌 (27)
참고문헌 신청
Tena-Sempere M / 2006 / The roles of kisspeptins and G protein-coupled receptor-54 in pubertal development / Curr Opin Pediatr 18:442~447
Delemarre-van de Waal HA / 2005 / Secular trend of timing of puberty / Endocr Dev 8:1~14
Gajdos ZK / 2010 / Genetic determinants of pubertal timing in the general population / Mol Cell Endocrinol 324:21~29
Teilmann G / 2005 / Prevalence and incidence of precocious pubertal development in Denmark : an epidemiologic study based on national registries / Pediatrics 116:1323~1328
Brito VN / 2008 / Update on the etiology, diagnosis and therapeutic management of sexual precocity / Arq Bras Endocrinol Metabol 52:18~31
Delemarre-van de Waal HA / 2005 / Secular trend of timing of puberty / Endocr Dev 8:1~14
Gajdos ZK / 2010 / Genetic determinants of pubertal timing in the general population / Mol Cell Endocrinol 324:21~29
Teilmann G / 2005 / Prevalence and incidence of precocious pubertal development in Denmark : an epidemiologic study based on national registries / Pediatrics 116:1323~1328
Brito VN / 2008 / Update on the etiology, diagnosis and therapeutic management of sexual precocity / Arq Bras Endocrinol Metabol 52:18~31
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