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- Title
Association of Polymorphisms in the Kisspeptin/GPR54 Pathway Genes With Risk of Early Puberty in Chinese Girls.
- Authors
Li, Di; Wu, Yu; Cheng, Jinquan; Liu, Liegang; Li, Xiaoheng; Chen, Dingyan; Huang, Suli; Wen, Ying; Ke, Yuebin; Yao, Yao; Su, Zhe; Zhou, Li
- Abstract
<bold>Context and Objective: </bold>This case control study was designed to investigate the association between mutation of 10 single nucleotide polymorphism (SNP) loci (rs1132506, rs5780218, rs192636495, rs4889, rs184749, rs12985070, rs708910, rs932491, rs8074995, and rs2306877) in all 5 genes (KISS1, GPR54, PLCB1, PRKCA, and ITPR1) in the kisspeptin/GPR54 pathway and the risk of early puberty in Chinese Han girls.<bold>Design and Participants: </bold>A total of 314 pairs of early puberty girls on their first visit to hospital and age-matched controls (± 3 months) were recruited. The genotypes of each SNP were determined and the effect of loci variation on early puberty was investigated.<bold>Results: </bold>rs5780218 was significantly associated with early puberty in additive, dominant, and recessive models of inheritance after adjusting for confounding factors (Pr < .05). After stratification, rs5780218 variation (odds ratio [OR], 1.650, 95% confidence interval [CI], 1.155-2.355 in additive models and OR, 2.116; 95% CI, 1.187-3.770 in recessive models) increased the risk of central precocious puberty (CPP); mutation in rs708910 (OR, 2.768; 95% CI, 1.305-5.872 in recessive model) had a positive association with the risk of CPP; and rs932491 variation was negatively associated with early and fast puberty (EFP) (OR, 0.309; 95% CI, 0.144-0.661 in additive models and OR, 0.317; 95% CI, 0.141-0.713 in dominant models).<bold>Conclusions: </bold>Our study suggests that mutation in rs5780218 and rs708910 increases the risk of CPP. rs932491 variation may have a protective effect on the risk of EFP. Further studies in larger populations or with people from different regions are needed to verify our findings.
- Subjects
PRECOCIOUS puberty; RESEARCH; GROWTH factors; RESEARCH methodology; GENETIC polymorphisms; PROGNOSIS; CASE-control method; EVALUATION research; MEDICAL cooperation; COMPARATIVE studies; LONGITUDINAL method
- Publication
Journal of Clinical Endocrinology & Metabolism, 2020, Vol 105, Issue 4, pN.PAG
- ISSN
0021-972X
- Publication type
journal article
- DOI
10.1210/clinem/dgz229