CoChat
Sign Up
Cited by 21Growth Hormone and Insulin-like Growth FactorsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenetics and Physical Performance

The Interactive Effect of GHR-Exon 3 and −202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner Syndrome

Braz, Adriana F., Costalonga, Everlayny F., Montenegro, Luciana R., Trarbach, Ericka B., Antonini, Sonir R. R., Malaquias, Alexsandra C., Ramos, Ester S., Mendonca, Berenice B. +2 more·2012·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2011-2521
Open this paper in CoChat — free account

Abstract

CONTEXT: There is great interindividual variability in the response to recombinant human (rh) GH therapy in patients with Turner syndrome (TS). Ascertaining genetic factors can improve the accuracy of growth response predictions. OBJECTIVE: The objective of the study was to assess the individual and combined influence of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on the short- and long-term outcomes of rhGH therapy in patients with TS. DESIGN AND PATIENTS: GHR-exon 3 and -202 A/C IGFBP3 genotyping (rs2854744) was correlated with height data of 112 patients with TS who remained prepubertal during the first year of rhGH therapy and 65 patients who reached adult height after 5 ± 2.5 yr of rhGH treatment. MAIN OUTCOME MEASURES: First-year growth velocity and adult height were measured. RESULTS: Patients carrying at least one GHR-d3 or -202 A-IGFBP3 allele presented higher mean first-year growth velocity and achieved taller adult heights than those homozygous for GHR-fl or -202 C-IGFBP3 alleles, respectively. The combined analysis of GHR-exon 3 and -202 A/C IGFBP3 genotypes showed a clear nonadditive epistatic influence on adult height of patients with TS treated with rhGH (GHR-exon 3 alone, R² = 0.27; -202 A/C IGFBP3, R² = 0.24; the combined genotypes, R² = 0.37 at multiple linear regression). Together with clinical factors, these genotypes accounted for 61% of the variability in adult height of patients with TS after rhGH therapy. CONCLUSION: Homozygosity for the GHR-exon3 full-length allele and/or the -202C-IGFBP3 allele are associated with less favorable short- and long-term growth outcomes after rhGH treatment in patients with TS.

Integrity signals

Registry

Crossref · 10.1210/jc.2011-2521

Cites

30 of 30 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Results from studies of girls with TS are contradictory regarding the effect of d3 alleles on growth response.

    “However, the results from studies of girls with TS are contradictory with some finding a significant effect on height velocity, total gain in height and adult height in girls with TS carrying one or two d3 alleles.130-132 Other studies did not find an effect.133-135”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [134]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Braz, A. F., Costalonga, E. F., Montenegro, L. R., Trarbach, E. B., Antonini, S. R. R., Malaquias, A. C., Ramos, E. S., Mendonca, B. B., Arnhold, I. J. P., & Jorge, A. A. L.
Affiliations
  • Universidade de São Paulo (BR)
  • Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Corresponding author
Jorge, Alexander A. L.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2012-04
Volume
97
Issue
4
Pages
E671-E677
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2011-2521
OpenAlex
W2051644961
Cited by
21
References
30
Citations by year
2024: 1 · 2022: 1 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 1 · 2016: 3 · 2015: 2 · 2014: 3 · 2013: 2
FWCI
1.79
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • Scientific Electronic Library Online (São Paulo Research Foundation, Latin American and Caribbean Center on Health Sciences Information, Conselho Nacional de Desenvolvimento Científico e Tecnológico) (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
Keywords
Turner syndrome, recombinant human growth hormone therapy, epistasis, adult height, growth rate, short stature
MeSH terms
Adult, Alleles, Body Height, Brazil, Drug Resistance, Exons, Female, Homozygote, Humans, Promoter Regions, Genetic, Receptors, Somatotropin, Recombinant Proteins, Turner Syndrome, Treatment Outcome, Gene Deletion, Insulin-Like Growth Factor Binding Protein 3, Human Growth Hormone, Hormone Replacement Therapy, Polymorphism, Single Nucleotide, Genetic Association Studies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review