title: Association study of four activity SNPs of CYP3A4 with the precocious puberty in Chinese girls.
abstract: 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 down-regulate 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.
authors.affiliation: State Key Laboratory of Bioreactor Engineering, Institute of Biochemistry, East China University of Science and Technology, 130 Meilong Road, Shanghai 200237, PR China.
authors.forename: Xiujuan
authors.initials: X
authors.lastname: Xin
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Luan
authors.forename: Junhua
authors.initials: J
authors.lastname: Xiao
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Wei
authors.forename: Jianhui
authors.initials: J
authors.lastname: Wang
authors.forename: Daru
authors.initials: D
authors.lastname: Lu
authors.forename: Shengli
authors.initials: S
authors.lastname: Yang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002648:Child; D051544:Cytochrome P-450 CYP3A; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011629:Puberty, Precocious / Q000235:genetics*; D013624:Taiwan
chemical_list: D003577:Cytochrome P-450 Enzyme System; C104464:CYP3A protein, human; D051544:Cytochrome P-450 CYP3A; C510163:CYP3A4 protein, human