Studies On The Relationship Between Growth Hormone Receptor (GHR) Exon 3 Polymorphism And The Effect Of Recombinant Human Growth Hormone (rhGH) Therapy In Growth Hormone Deficiency (GHD) Children

Object:To investigate the frequencies of growth hormone receptor(GHR) exon 3 polymorphism in Chinese growth hormone deficiency(GHD) children,and to study the relationship between GHR exon 3 polymorphism and the effect of recombinant human growth hormone(rhGH) therapy.Materials and Methods:72 GHD children treated with GH for 6 months(dose was 0.20mg/kg·wk).Genomic DNA was extracted from their leukocytes.The GHR exon 3 gene polymorphism was determined by multiple PCR assay.The data was analysed by SPSS 12.0(t test,Pearson correlation analysis and linear regression).Results:1.The allele frequencies of GHR exon 3 fl/fl,fl/d3 or d3/d3 were 69.5%, 8.3%and 22.2%respectively.2.There are no significant difference in growth velocity(△GV,8.54±3.90 vs 9.86±4.12),height gain(△Ht,5.65±1.93 vs 6.20±1.83),however,there exists marginal difference about height SD score gain(△HtSDS,0.91±0.35 vs 1.33±1.46) between the two groups(fl/fl vs fl/d3 or d3/d3)(P＞0.05).3.In male GHD children,There are no significant difference in△GV(8.32±4.02 vs 10.03±4.31),△Ht(5.52±2.01 vs 6.27±1.92) and△HtSDS(0.89±0.37 vs 1.33±1.55) between the two groups(fl/fl vs fl/d3 or d3/d3)(P＞0.05).In female GHD children,the results are similar with those in male patients.4.In the patients whose GH stimulation test peak are＜5ng/ml,There are no significant difference in△GV(5.48±2.51 vs 7.75±4.19),△Ht(4.17±1.18 vs 5.55±2.04) and△HtSDS(0.75±0.30 vs 1.11±0.61) between the two groups(fl/fl vs fl/d3 or d3/d3)(P＞0.05).In those whose GH peaks between 5 and 10ng/ml,the results are similar with those in the group of GH peak＜5ng/ml patients.5.The p values of pearson analysis and linear regression in△HtSDS vs start age,vs height SD and vs weight are all less than 0.05.The p values of pearson analysis and linear regression in△GV vs start height SD and vs GH peak are both less than 0.05.Conclusions:The allele frequencies of GHR exon 3 of Chinese GHD are different from those of foreign GHD children which suggest that the GHR exon 3 may have a racial variation.There is no relationship between GHR exon 3 polymorphism,sex or GH Peak and the effect of rhGH therapy.△HtSDS is correlated with start age,height SD and weight.△GV is correlated with start height SD and GH peak.