Association of ring-finger protein 3 (MKRN3) gene rs2239669 polymorphism with central precocious puberty susceptibility

VernacularTitle:MKRN3基因rs2239669多态性与中枢性性早熟易感性的相关性研究
Author: Zhanfeng CHEN ¹ ; Peiwei ZHAO ; Xiaonan CAI ; Hui YAO ; Xiaohong CHEN ; Xuelian HE ; Chunhui WAN
Author Information

1. 武汉大学健康学院
Keywords: MKRN3 gene; central precocious puberty; single nucleotide polymorphism; high resolution melting
From: Journal of Clinical Pediatrics 2018;36(5):372-375,380
CountryChina
Language:Chinese
Abstract: 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.