文献类型：期刊文献

英文题名：GPR54 polymorphisms in Chinese girls with central precocious puberty

作者：Luan, X.; Yu, H.; Wei, X.; Zhou, Y.; Wang, W.; Li, P.; Gan, X.; Wei, D.; Xiao, J.

机构：[1]E China Univ Sci & Technol, Inst Biochem, State Key Lab Bioreactor Engn, Shanghai 200237, Peoples R China;[2]Donghua Univ, Inst Biol Sci & Technol, Shanghai 200052, Peoples R China;[3]Harbin Childrens Hosp, Dept Adolescent Clin, Harbin, Peoples R China;[4]Shanghai Jiao Tong Univ, Ruijin Hosp, Dept Pediat, Shanghai 200030, Peoples R China;[5]Shanghai Jiao Tong Univ, Dept Endocrinol, Affiliated Childrens Hosp, Shanghai 200030, Peoples R China

年份：2007

卷号：86

期号：2

起止页码：77

外文期刊名：NEUROENDOCRINOLOGY

收录：;WOS:【SCI-EXPANDED(收录号:WOS:000249722600002)】；

语种：英文

外文关键词：central precocious puberty; GPR54 polymorphisms; absence of puberty onset; idiopathic hypogonadotropic hypogonadism

摘要：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. Copyright (C) 2007 S. Karger AG, Basel.