文献类型：期刊文献

英文题名：Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls

作者：Xin, Xiujuan; Xiao, Junhua; Luan, Xiaohui; Zhou, Yuxun; Lu, Daru; Wei, Dongzhi; Yang, Shengli

机构：[1]E China Univ Sci & Technol, Inst Biochem, State Key Lab Bioreactor Engn, Shanghai 200237, Peoples R China;[2]Donghua Univ, Shanghai, Peoples R China;[3]Fudan Univ, Shanghai 200433, Peoples R China;[4]Acad Sci China, Shanghai, Peoples R China

年份：2006

卷号：27

期号：1-2

起止页码：219

外文期刊名：NEUROENDOCRINOLOGY LETTERS

收录：;WOS:【SCI-EXPANDED(收录号:WOS:000238667700037)】；

语种：英文

外文关键词：precocious puberty; association study; activity SNP; adrenal steroid hormone; Body Mass Index (BMI)

摘要：OBJECTIVES: In order to investigate whether the variances in the candidate genes (Insulin receptor substrate IRS-1, beta 3-adrenergic receptor ADRB3, 3 beta-hydro-xysteroid dehydrogenase HSD3B2, glucocorticoid receptor GRL and 21-hydroxylase CYP21) which affect the metabolism of adrenal steroids hormone and body composition, are associated with precocious puberty in Chinese girls. METHODS: PCR-RFLP analysis method was applied in the typing of six activity SNPs in five genes in two groups: 176 precocious puberty girls as case and 192 healthy girls as control. RESULTS: The typing results showed that the frequencies of the allele CYP21 L282 polymorphism were 32.7% and 32.6% in case and control groups (P=0.518), respectively. For IRS-1 8972, they were 0.6% in cases and 2.3% in controls (P=0.043), for ADRB3 864,13.6% in cases and 12% in controls (P=0. 378), and for GRL S363,7.4% in cases and 5.73% in controls (P=0.335). No sample in the two groups carries the variation of CYP21 I172N and HSD3B2 L236S. CONCLUSION: Among these six activity SNPs in five candidate genes, IRS-1 9728 was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.