目的　探讨makorin环指蛋白3（MKRN3）基因的多态性位点rs2239669与中枢性性早熟（CPP）易感性的关系。 方法　采用病例-对照研究方法，选取246例CPP患儿为研究对象，以269例健康儿童作为对照组。利用高分辨率溶解曲 线（HRM）和实时定量-聚合酶链反应（RT-PCR）方法，对rs2239669位点多态性和MKRN3基因表达水平进行检测，比较 不同基因型、等位基因及其在不同基因模型中与CPP风险的关系，以及不同基因型的MKRN3基因表达水平。结果　CPP 组SNP位点rs2239669的基因型（TT、TC、CC）频率与对照组的差异有统计学意义（P=0.035）；CC基因型的CPP发病风险 是TT基因型的2.298倍（95%CI：1.045~5.051）。CPP组C等位基因频率高于对照组（78.7% 对 71.7%， P=0.010）；携带 C等位基因患CPP风险是T等位基因的1.451倍（95%CI：1.090~1.932）。 在隐性遗传模型中， CC基因型在CPP组明显 高于对照组（P=0.021）。 在三种基因型的CPP患儿中，每种各随机抽取9例，比较MKRN3表达水平发现其差异有统计学 意义（F=4.052， P=0.041）。 结论　MKRN3基因SNP位点rs2239669变异与CPP遗传易感性相关，不同基因型CPP患儿的 MKRN3表达水平有差异。

Objectives　To explore the association between the single nucleotide polymorphism (SNP) rs2239669 in makorin ring-finger protein 3 (MKRN3) gene and the susceptibility to central precocious puberty (CPP). Methods　A case-control study including 246 children with CPP and 269 healthy children was performed. The genotype and MKRN3 expression levels of patients were analyzed by PCR-HRM and RT-PCR，respectively. Results　SNP rs2239669 genotype (TT，TC，CC) and allele frequencies (T and C) were different between cases and controls，with higher CC genotype in CPP patients. Under recessive model (CC/TT+TC)，CC genotype was higher in CPP group and associated with higher risk of CPP (95%CI：1.062-2.143， P=0.021). MKRN3 expression levels were different among patients with different genotypes，of which TT genotype had the highest level followed by TC and CC (0.376±0.094, 0.330±0.068, 0.250±0.072， P=0.041). Conclusions　MKRN3 SNP rs2239669 was associated with increased risk of CPP, and patients with TT genotype had higher MKRN3 levels.