Aims: The GPR54 gene has been proved to be important in the process of puberty onset, yet no association study has been performed to evaluate the effect of polymorphisms in the gene on central precocious puberty (CPP). This study was designed to scan for polymorphisms in the GPR54 gene and to investigate the relationships between the genotypes of GPR54 and the disease.
Methods: 272 Chinese Han girls diagnosed to be CPP patients were recruited as the case group and 288 unrelated normal Chinese Han girls as the control group. The whole GPR54 gene was directly sequenced in randomly selected case samples, and the polymorphisms identified were genotyped by ligase detection reaction in both groups. Distributions of the polymorphisms and haplotypes were calculated for statistical evaluation.
Results: Totally 6 polymorphisms were found in sequencing, one of which is a nonsynonymous mutation, while genotyping declared that another SNP located in the promoter region was statistically related to the disease (p = 0.037).
Conclusion: One polymorphism in GPR54 gene might be correlated with some cases of CPP, likely by changes in expression of the receptor, but the moderate p value and the lack of functional data make it hard to confirm the correlation. Further studies on the polymorphisms are needed for the exact mechanism.
(c) 2007 S. Karger AG, Basel.