Department of School Hygiene, Shenzhen Center for Disease Control and Prevention, Shenzhen, China.
Department of Nutrition and Food Hygiene, Hubei Key Laboratory of Food Nutrition and Safety and the Ministry of Education (MOE) Key Lab of Environment and Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
J Clin Endocrinol Metab. 2020 Apr 1;105(4). doi: 10.1210/clinem/dgz229.
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.
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.
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).
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.
本病例对照研究旨在探讨 kisspeptin/GPR54 通路中 5 个基因（KISS1、GPR54、PLCB1、PRKCA 和 ITPR1）的 10 个单核苷酸多态性（SNP）位点（rs1132506、rs5780218、rs192636495、rs4889、rs184749、rs12985070、rs708910、rs932491、rs8074995 和 rs2306877）的突变与中国汉族女孩青春期提前的风险之间的关联。
共招募了 314 对首次就诊于医院的青春期提前女孩及其年龄匹配的对照组（±3 个月）。确定了每个 SNP 的基因型，并研究了基因座变异对青春期提前的影响。
调整混杂因素后，rs5780218 在加性、显性和隐性遗传模型中均与青春期提前显著相关（Pr<.05）。分层后，rs5780218 变异（比值比[OR]，1.650，95%置信区间[CI]，1.155-2.355 在加性模型和 OR，2.116；95%CI，1.187-3.770 在隐性模型）增加了中枢性性早熟（CPP）的风险；rs708910 突变（OR，2.768；95%CI，1.305-5.872 在隐性模型）与 CPP 风险呈正相关；rs932491 变异与早发性快速青春期（EFP）呈负相关（OR，0.309；95%CI，1.44-0.661 在加性模型和 OR，0.317；95%CI，1.41-0.713 在显性模型）。
我们的研究表明，rs5780218 和 rs708910 的突变增加了 CPP 的风险。rs932491 变异可能对 EFP 的风险具有保护作用。需要在更大的人群或来自不同地区的人群中进行进一步的研究来验证我们的发现。
