Confirmation that SNPs in the high mobility group‐A2 gene (<i>HMGA2</i>) are associated with adult height in the Japanese population; wide‐ranging population survey of height‐related SNPs in <i>HMGA2</i>

Takeshita, Hitoshi; Fujihara, Junko; Soejima, Mikiko; Koda, Yoshiro; Kimura-Kataoka, Kaori; Ono, Rei-Ichiro; Yuasa, Isao; Iida, Reiko; Ueki, Misuzu; Nagao, Masataka; Yasuda, Toshihiro

doi:10.1002/elps.201100128

Cited by 12 publications

(6 citation statements)

References 23 publications

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“…The most important factor is GH. After liver GH binds to GH, IGF-1 is secreted, and IGF-1 inhibits GH secretion by negative feedback (18). The IGFBP-3 gene is located in the 7p12-p13 region and is highly conserved.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the value and correlation of IGF‑1 with GH and IGFBP‑3 in the diagnosis of dwarfism

et al. 2019

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Correlation between the value of insulin-like growth factor-1 (IGF-1) in the diagnosis of dwarfism and the levels of growth hormone (GH) and insulin-like growth factor binding protein-3 (IGFBP-3) was investigated. From April 2014 to June 2017, 122 children with dwarfism who were treated in The Affiliated Wuxi No. 2 People's Hospital of Nanjing Medical University and The First Affiliated Hospital of Xinxiang Medical University were selected as the experimental group, and 51 normal children as the control group. The basic information was recorded in detail; serum GH and IGFBP-3 levels were measured using an arginine stimulation test and an insulin hypoglycemia stimulation test, respectively. According to the peak of GH in the experimental group, there were 65 cases of growth hormone deficiency (GHD) and 57 cases of idiopathic short stature (ISS). The expression levels of IGF-1 of the serum in the experimental and control group were detected by chemiluminescence immunoassay (CLIA). The correlation between IGF-1 and GH, IGF-1 and IGFBP-3 was analyzed. The expression level of serum IGF-1 in GHD group was significantly lower than that in the ISS group (P<0.05). The expression level of serum IGF-1 in GHD group was significantly lower than that in the control group (P<0.05). The expression level of serum IGF-1 in ISS group was significantly lower than that in the control group (P<0.05). The results of partial correlation studies showed that IGF-1 is positively correlated with GH and IGFBP-3. Detection of GH and IGFBP-3 are important for the early diagnosis and comprehensive evaluation of children with dwarfism, and also in the detection of IGF-1 can reflect the therapeutic effect of dwarfism on recombinant human growth hormone (rhGH) treatment, which is worthy of application in clinics.

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Section: Discussionmentioning

confidence: 99%

Analysis of the value and correlation of IGF‑1 with GH and IGFBP‑3 in the diagnosis of dwarfism

et al. 2019

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“…IGF-1 is mainly synthesized and secreted by the liver, and its expression varies under the influence of various factors, including GH. GH has a direct effect on target cells, stimulating the synthesis and secretion of IGF-1, and inhibiting the secretion of GH through negative feedback (11,12).…”

Section: Discussionmentioning

confidence: 99%

Development of a predictive model of growth hormone deficiency and idiopathic short stature in children

Cong

Qiu

et al. 2021

Exp Ther Med

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The aim of the present study was to develop predictive models using clinical features and MRI texture features for distinguishing between growth hormone deficiency (GHD) and idiopathic short stature (ISS) in children with short stature. This retrospective study included 362 children with short stature from Children's Hospital of Hebei Province. GHD and ISS were identified via the GH stimulation test using arginine. Overall, there were 190 children with GHD and 172 with ISS. A total of 57 MRI texture features were extracted from the pituitary gland region of interest using C++ language and Matlab software. In addition, the laboratory examination data were collected. Receiver operating characteristic (ROC) regression curves were generated for the predictive performance of clinical features and MRI texture features. Logistic regression models based on clinical and texture features were established for discriminating children with GHD and ISS. Two clinical features [IGF-1 (insulin growth factor-1) and IGFBP-3 (IGF binding protein-3) levels] were used to build the clinical predictive model, whereas the three best MRI textures were used to establish the MRI texture predictive model. The ROC analysis of the two models revealed predictive performance for distinguishing GHD from ISS. The accuracy of predicting ISS from GHD was 64.5% in ROC analysis [area under the curve (AUC), 0.607; sensitivity, 57.6%; specificity, 72.1%] of the clinical model. The accuracy of predicting ISS from GHD was 80.4% in ROC analysis (AUC, 0.852; sensitivity, 93.6%; specificity, 65.8%) of the MRI texture predictive model. In conclusion, these findings indicated that a texture predictive model using MRI texture features was superior for distinguishing children with GHD from those with ISS compared with the model developed using clinical features.

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“… 38 Further, HMGA2 rs7968902 is significantly correlated with the height of the Japanese population. 39 We previously explored the effect of HMGA2 SNPs on susceptibility to different diseases and found that HMGA2 polymorphisms weakly influence Wilms tumor. 40 In addition, the HMGA2 SNPs, rs8756A>C and rs968697T>C, are associated with lower susceptibility to neuroblastoma 41 and hepatoblastoma, 42 respectively.…”

Section: Discussionmentioning

confidence: 99%

Association of HMGA2 Polymorphisms with Glioma Susceptibility in Chinese Children

Zhou¹,

Wang²,

Zhang

et al. 2021

PGPM

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Background:Glioma is a malignant central nervous system tumor in children, with poor outcomes and prognosis. HMGA2 is a proto-oncogene with increased expression in various malignancies. Methods: We explored the association of HMGA2 polymorphisms with glioma susceptibility in Chinese children using a case-control study (191 cases, 248 controls). HMGA2 single nucleotide polymorphisms (rs6581658 A>G; rs8756 A>C; rs968697 T>C) were genotyped using PCR-based TaqMan. Results: Increased glioma susceptibility was associated with rs6581658 A>G; AG (adjusted odds ratio (OR) = 1.71, 95% confidence interval (CI) = 1.13-2.58, P = 0.010) or GG (adjusted OR = 3.12, 95% CI = 1.26-7.74, P = 0.014) genotype carriers had significantly raised glioma risk compared with AA genotype carriers. The rs6581658 AG/GG (adjusted OR = 1.85, 95% CI = 1.25-2.73, P = 0.002) and AA/GG (adjusted OR = 2.58, 95% CI = 1.05-6.33, P = 0.038) genotypes were associated with an increased risk of glioma relative to the AA genotype. Subjects with 2-3 risk genotypes had a significantly elevated risk (adjusted OR = 1.93, 95% CI = 1.31-2.84, P = 0.001) relative to those with 0-1 risk genotype. Conclusion: HMGA2 rs6581658 A>G is associated with glioma susceptibility in Chinese children.

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Confirmation that SNPs in the high mobility group‐A2 gene (HMGA2) are associated with adult height in the Japanese population; wide‐ranging population survey of height‐related SNPs in HMGA2

Cited by 12 publications

References 23 publications

Analysis of the value and correlation of IGF‑1 with GH and IGFBP‑3 in the diagnosis of dwarfism

Analysis of the value and correlation of IGF‑1 with GH and IGFBP‑3 in the diagnosis of dwarfism

Development of a predictive model of growth hormone deficiency and idiopathic short stature in children

Association of HMGA2 Polymorphisms with Glioma Susceptibility in Chinese Children

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