Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls.
OBJECTIVE
In order to investigate whether the variances in the candidate genes (Insulin receptor substrate IRS-1, beta3-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 R972, they were 0.6% in cases and 2.3% in controls (P=0.043), for ADRB3 R64, 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.


CONCLUSIONS
Among these six activity SNPs in five candidate genes, IRS-1 972R 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.
Xin
Xiujuan
X
East China University of Science and Technology, Shanghai, China.
Xiao
Junhua
J
Luan
Xiaohui
X
Zhou
Yuxun
Y
Lu
Daru
D
Wei
Dongzhi
D
Yang
Shengli
S
D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics; D000305:Adrenal Cortex Hormones / Q000378:metabolism*; D000483:Alleles; D002648:Child; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D055504:Insulin Receptor Substrate Proteins; D008969:Molecular Sequence Data; D010750:Phosphoproteins / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011629:Puberty, Precocious / Q000235:genetics* / Q000378:metabolism*; D022702:Receptors, Adrenergic, beta-3 / Q000235:genetics; D011965:Receptors, Glucocorticoid / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D000305:Adrenal Cortex Hormones; D012739:Gonadal Steroid Hormones; C526292:IRS1 protein, human; D055504:Insulin Receptor Substrate Proteins; D010750:Phosphoproteins; D022702:Receptors, Adrenergic, beta-3; D011965:Receptors, Glucocorticoid; D015096:3-Hydroxysteroid Dehydrogenases; D013255:Steroid 21-Hydroxylase