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Objective To explore the association between single nucleotide polymorphisms (SNP) in insulinlike growth factor-1 receptor gene(IGF-1R gene) and susceptibility to idiopathic short stature (ISS).Methods Casecontrol method was employed,an experimental group included 788 children with clinically diagnosed ISS (523 male and 265 female)and a healthy control group included 572 healthy children (286 male and 286 female).SNPs were genotyped by using the SNaPshot Multiplex System.Results 1.In male subjects,different genotypes at rs1976667 locus were statistically associated with genetic susceptibility to ISS (P =0.047),showing the G dominant inheritance (P =0.020) and being related to the genetic target height.G allele gene at rs2684788 locus was statistically associated with genetic susceptibility to ISS(P =0.021),showing G dominant inheritance (P ＜ 0.001),and being related to the genetic target height and body mass index.2.In female subjects,different genotypes at rs1976667 locus were statistically associated with genetic susceptibility to ISS(P =0.012),showing the G dominant inheritance(P =0.003).Different genotypes at rs2684788 locus genotypes (P =0.005),G allele (P =0.006) and G recessive mode (P ＜ 0.001) were all statistically associated with genetic susceptibility to ISS.Conclusions The rs1976667 and rs2684788 locus of human IGF-1R gene were probably associated with genetic susceptibility to ISS of different gender.Different clinical phenotypes of ISS may be relevant to SNP polymorphism.
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<p><b>OBJECTIVE</b>To study the association between single nucleotide polymorphism (SNP) of insulin-like growth factor I receptor (IGF-IR) gene and idiopathic short stature (ISS).</p><p><b>METHODS</b>A total of 804 children with ISS and 575 normal controls were recruited from 2008 to 2011. IGF-IR gene SNP was genotyped using the Snapshot Multiplex System.</p><p><b>RESULTS</b>The distribution frequency of genotype rs1976667 showed no significant difference between the ISS and the control groups, while that of the allele A of rs1976667 was significantly higher in the ISS group than in the control group (P<0.01).</p><p><b>CONCLUSIONS</b>The allele A at rs1976667 SNP of IGF-IR gene is a risk factor for ISS.</p>
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Adolescent , Child , Child, Preschool , Female , Humans , Male , Growth Disorders , Genetics , Polymorphism, Single Nucleotide , Receptor, IGF Type 1 , GeneticsABSTRACT
Objective To study the relationship between the clinical manifestations and changes of pituitary magnetic resonance imaging(MRI) in short stature children with growth hormone deficiency(GHD).Methods The pituitary MRI finding in 38 cases of short stature children diagnosed as GHD(males 23,females 15;5-14 years old,10 children were in pubertas and Tanner Ⅱ-Ⅲ) were analyzed,and the pituitary morphology,size,signal and pituitary stalk's shape and location were observed.SPSS 12.0 soffware was used to analyze the data.Results The forms of pituitery were plaque in 20 children(53%),cupped in 17 children(45%),and carinate in 1 children.In the 22 cases of completely GHD,18 cases had different levels of anterior pituitary dysplasia,abnormal pituitary stalk and/or pituitary signal changes,5 cases without posterior lobe disappeared high signal and 4 cases with pituitary stalk interruption syndrome;the other 4 cases had completely normal pituitary.In the 16 cases of partially GHD,7 cases had varying degrees of pituitary size and/or abnormal pituitary stalk,8 cases had completely normal pituitary,and 1 case had pituitary adenoma.Conclusion Pituitary MRI could assist diagnosis and evaluate pituitary function in short stature children.
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Objective To explore the changes of cytokine levels and their roles in morbidity of autoimmune thyroid disease(AITD) in children.Methods The serum concentrations of interleukin-4(IL-4),interleukin-6(IL-6),tumor necrosis factor-?(TNF-?),interferon-? (IFN-?) were determined with enzyme linked immunosorbent assay (ELISA) among 30 patients with Graves′ disease (GD) and 20 patients with Hashimotos thyroiditis(HT) and 30 children without AITD subjects.Results The serum levels of IL-4 and IL-6 in patients with GD were higher than those of subjects (Pa