Association of PLCB1 gene polymorphism with the risk of central precocious puberty in Chinese Han girls

Abstract

Objective To investigate the association between mutation of PLCB1, the downstream gene of KISS1/ GPR54 pathway, and the risk of central precocious puberty (CPP) in Chinese Han girls.

Methods Totally 169 pairs of CPP girls on their first visit to hospital and age-matched controls (±3 months) were recruited. The genotypes of rs6140544, rs11476922, rs3761170 and rs2235613 were determined and the effect of loci variations on CPP was investigated.

Results After adjusting for confounding factors (BMI, maternal age at menarche, maternal age at birth, and time for bed), rs2235613 variation was significantly negative associated with CPP in recessive models ( OR = 0.46, 95% CI = 0.24-0.91), and mutation in rs3761170 increased the risk of CPP in dominant models ( OR = 1.99, 95% CI = 1.01-3.93).

Conclusion The study suggests that mutation in rs3761170 increases the risk of CPP and rs2235613 variation may have a protective effect on the risk of CPP.

Abstract

【摘要】 目的 探讨 KISS1/ GPR54 信号通路下游关键基因 PLCB1 上 SNP 位点多态性与中国汉族女童中枢性性早熟 发病风险之间的关联, 为中枢性性早熟的早期筛查和风险预警提供生物标志物。 方法 于 2016 年 9 月至 2018 年 5 月招 募经医院首次确诊的中枢性性早熟女童及年龄与其相匹配 (±3 个月) 的正常对照共 169 对, 检测 PLCB1 基因上功能性 SNP 位点 ns6140544、 ns11476922、 ns3761170、 ns2235613 的基因型, 并探讨突变与疾病发病风险的关联性。 结果 校正母亲 初潮年龄、母亲生育年龄、体质量指数 (BM)、就寝时间后, 在隐性模型中, rs2235613 位点突变与疾病发病风险呈负相关 ( OR = 0.46, 95% CI =0.24〜0.91)；在显性模型中, rs3761170 位点突变与疾病发病风险呈正相关 ( OR =1.99, 95% CI =1.01~ 3.93)。 结论 ns3761170 位点突变可增加汉族女童中枢性性早熟的发病风险；而 ns2235613 位点突变对疾病的发生具有保 护作用。