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Involvement of genes related to inflammation and cell cycle in Idiopathic Short Stature

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Abstract

Idiopathic Short Stature (ISS) defines a condition in which height is <−2SD compared to the mean of a reference population where systemic, endocrinological, nutritional or chromosomal disorders have not been identified and diagnosis is based on exclusion of any known causes of short stature. JAK/STAT pathway is triggered by GH binding to the GH receptor and promotes cellular growth through transcription of GH-responsive genes. In order to identify “candidate genes” differently expressed in ISS subjects with respect to control ones, we analyzed the expression of 84 genes related to JAK/STAT pathway by RT2 Profiler PCR array approach in a total of 10 subjects. Then, we validated the observed data by Real Time PCR and ELISA assays in a major number of subjects. We found two genes that were differently expressed in ISS subjects with respect to the control group: CXCL9 and FCGR1A/CD64, both significantly up-regulated (fold change 2.17 and 1.70, respectively) and belonging to family of IFN-γ-inducible factors. Further, ISS subjects showed an increased gene expression of IFN-γ and IFI16, higher serum levels of IFN-γ but similar levels of CXCL9 when compared to healthy subjects. In addition, we showed a pubertal modulation of CXCL9 levels. These data suggest that inflammatory and regulatory factors of the cell cycle may be involved in the ISS condition, introducing a new perspective to its etiology.

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Correspondence to Letizia Trovato.

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Trovato, L., Prodam, F., Genoni, G. et al. Involvement of genes related to inflammation and cell cycle in Idiopathic Short Stature. Pituitary 16, 83–90 (2013). https://doi.org/10.1007/s11102-012-0378-8

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  • DOI: https://doi.org/10.1007/s11102-012-0378-8

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