文献类型：期刊文献

英文题名：Association study of four activity SNPs of CYP3A4 with the precocious puberty in Chinese girls

作者：Xin, XJ; Luan, XH; Xiao, JH; Wei, DZ; Wang, JH; Lu, DR; Yang, SL

机构：[1]E China Univ Sci & Technol, Inst Biochem, State Key Lab Bioreactor Engn, Shanghai 200237, Peoples R China;[2]Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China;[3]Shanghai Bioengn Res Ctr, Shanghai, Peoples R China

年份：2005

卷号：381

期号：3

起止页码：284

外文期刊名：NEUROSCIENCE LETTERS

收录：;WOS:【SCI-EXPANDED(收录号:WOS:000229558300017)】；

语种：英文

外文关键词：precocious puberty; CYP3A4; genetic variation

摘要：CYP3A4 plays an important role in the metabolism of a variety of endogenous and exogenous compounds. Earlier studies revealed that a high-activity variation of the CYP3A4 gene, CYP3A4*1B is significantly associated with the precocious puberty in girls. Other three variations, CYP3A4*4, CYP3A4*5 and CYP3A4*6, which were found in a study carried out in a Chinese population in Taiwan, were reported to downregulate the enzymatic activity of CYP3A4. The four activity SNPs were typed in our study in two groups of Chinese girls: 176 girls with precocious puberty as the case group, and 192 normal girls as the control group. No variations of CYP3A4*1B and CYP3A4*4 were found in all the cases and controls. Heterozygous of CYP3A4*5 was found in five subjects of the 192 controls but none in the cases, heterozygous of CYP3A4*6 was found in two subjects of the controls but none in the cases. Fisher's exact test showed that the variation of CYP3A4*5 was associated with the onset of puberty in Chinese girls (P-trend = 0.038), while the variation of CYP3A4*6 was not associated with the onset of puberty in Chinese girls (P-trend = 0.272). The result suggests that these mutations in the CYP3A4 gene have no contribution to the early onset of puberty in Chinese girls, but are related in some way with the puberty development in Chinese girls. (c) 2005 Elsevier Ireland Ltd. All rights reserved.