Relationship between high mobility group protein A2 gene polymorphisms and the efficacy of recombinant human growth hormone treatment in children with prepubertal idiopathic short stature / 中华实用儿科临床杂志

ABSTRACT

Objective:To investigate the relationship of single nucleotide polymorphism (SNP) of high mobi-lity group protein A2 ( HMGA2) gene with prepubertal idiopathic short stature (ISS) and the efficacy of recombinant human growth hormone (rhGH) in Han population of Henan Province. Methods:A total of 120 children who were diagnosed with prepubertal ISS and treated with rhGH standards for at least one year from July 2017 to September 2019 at the Children′s Endocrinology Clinic of the Third Affiliated Hospital of Zhengzhou University were enrolled in the ISS group of this study.Meanwhile, 120 healthy children (control group) of the same age and gender whose height was within the normal range were selected as controls.Their peripheral blood was collected, and the polymorphism distributions of SNP loci(rs1042725 and rs7968682)were determined by molecular biology.Analysis was carried out to specify the annual growth rate, height standard deviation score (HtSDS), and insulin-like growth factor-1(IGF-1) of ISS children with different genotypes (before and after treatment )and those in the control group.Results:(1)In both ISS group and control group, children with CC and CT alleles at rs1042725 locus of HMGA2 had higher growth rate than those with TT allele before treatment[(4.33±0.64) cm/year, (3.95±0.45) cm/year; (6.35±0.41) cm/year, (6.12±0.32) cm/year vs.(3.76±0.52) cm/year, (5.96±0.42) cm/ year], therefore the difference were statistically significant (all P<0.05). (2)After treatment with GT genotype at the HMGA2 rs7968682 locus in children with ISS, the growth rate of age and bone HtSDS was higher than that of TT genotype [(0.74±0.30) cm/year vs. (0.63±0.24) cm/year, (0.16±0.05) cm/year vs.(0.14±0.05) cm/year], therefore the differences were statistically significant(all P<0.05). Conclusions:The polymorphism of the HMGA2 SNP locus (rs1042725) in the Han population of Henan province may be related to ISS level, while the polymorphism of the SNP locus (rs7968682) may be related to rhGH efficacy.