Association of PLCB1 gene polymorphism with the risk of central precocious puberty in Chinese Han girls / 中国学校卫生

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.