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Short stature genes identified in children
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According to data from a large European cohort, genes involved in transcriptional regulation — NFKB1 and ZBTB38 — and growth factor signaling were associated with short stature among children with insulin-like growth factor I deficiencies.
Researchers conducted a prospective, cross-sectional, epidemiogenetic case-control study in nine European countries from 2008 to 2010 to characterize IGF-I axis status and identify a broader range of genetic associations in pediatric patients (n=275; aged at least 2 years) with short stature and normal GH (≥1 peak GH ≥7 mcg/L).
The researchers measured serum IGF-I, IGF-binding protein-III (IGFBP-III) and acid-labile subunit (ALS) levels and conducted candidate gene exome sequencing in the cohort and ethnicity-matched controls.
According to data, serum IGF-I, IGFBP-III and ALS levels were significantly correlated. However, the researchers reported differences between the prevalence of IGF-I (53%), IGFBP-III (30%) and ALS (0.8%) deficiencies.
Further data indicate that an insertion-deletion (Indel) on the IGF-I gene (P=1.2×10–5), an Indel on NFKB1 (P=1.36×10–10) and two single-nucleotide polymorphisms on ZBTB38 (P<2.3×10–6) were linked to short stature. Additionally, two single-nucleotide polymorphisms on genes related to protein kinase regulation, MAPK and Fanconi pathways also were linked to short stature (P<10–4), researchers wrote.
These data suggest other pathways that are not directly correlated with the GH–IGF-I axis have an effect on short stature in this patient population, requiring subsequent genetic investigation, they wrote.
Disclosure: Clayton reports consultancy with Ipsen. All other researchers report employment with Ipsen or Celera.
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