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Genetic polymorphisms associated with idiopathic short stature and first-year response to growth hormone treatment

Hormone Research in Paediatrics Apr 13, 2019

Quigley CA, et al. - In this investigation, researchers identified genetic polymorphisms linked with the idiopathic short stature (ISS) phenotype and with growth response to supplemental GH. Using a case-control analysis, they compared the prevalence of “tall” vs “short” alleles at 52 polymorphic loci in 94 children with ISS followed in the Genetics and Neuroendocrinology of Short Stature International Study vs 143 controls from the Fels Longitudinal Study. Children with ISS vs controls had lower odds of “tall” alleles for GHR; rs2234693/ESR1; rs967417/BMP2, and rs4743034/ZNF462. Associations were identified with “short” alleles at a number of height-related loci in children with ISS. Furthermore, in the cohort, a polymorphic variant near SF3B4 was related to the response of GH treatment.

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