Research of idiopathic short stature and estrogen receptor gene polymorphism

VernacularTitle:雌激素受体基因单核苷酸多态性与特发性矮小的相关性研究
Author: Yi YUAN ; Yu YANG ; Hui HUANG ; Ying WANG
Publication Type:Journal Article
Keywords: idiopathic short stature; estrogen receptor; SNP; IGF-1
From: Chongqing Medicine 2014;(23):2980-2982
CountryChina
Language:Chinese
Abstract: Objective This study was to investigate the association of certain single nucleotide polymorphisms (SNPs) of the ER with genetic susceptibility to ISS .Methods Genomic DNA was extracted from peripheral blood of children with ISS (n=355) and of normal growth and development individuals as controls from Jiangxi province (n=345) .The association between the ER gene polymorphisms with the height-related clinical traits was analysed .Results The allele T of rs6557177 is significantly lower in the ISS group than in the control group(P=0 .021 ,OR=0 .624) .The clinical indexes of two kinds of different genotypes were analyzed and compared ,there was no statistical difference(P>0 .05) .Conclusion The allele T of rs6557177 of ER gene is a protection factor of ISS .C gene and T gene grouping clinical parameters (hight ,weight ,IGF-1 ,IGFBP3 ,E2 and BMI) were analyzed and found no statistically significant difference .