Evidence map›Paper›PMID 26536448›Full record

ArticlePediatric research2016

Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.

Ileana Fusco, Deepak Babu, Simona Mellone, Nadia Barizzone, Flavia Prodam, Antonella Fanelli, Ranjit Muniswamy, Antonella Petri, Simonetta Bellone, Gianni Bona and 1 more

Abstract readComparative Study
PubMed Publisher
In one paragraph

Article in Pediatric research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. HMGA Genes and Proteins in Development and Evolution.International journal of molecular sciences · 2020
    Review
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Ileana FuscoDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Deepak BabuDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Simona MelloneDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Nadia BarizzoneDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Flavia ProdamDepartment of Health Sciences, University of Eastern Piedmont, Paediatrics Unit, Novara, Italy.
Antonella FanelliDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Ranjit MuniswamyDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.
Antonella PetriDepartment of Health Sciences, University of Eastern Piedmont, Paediatrics Unit, Novara, Italy.
Simonetta BelloneDepartment of Health Sciences, University of Eastern Piedmont, Paediatrics Unit, Novara, Italy.
Gianni BonaDepartment of Health Sciences, University of Eastern Piedmont, Paediatrics Unit, Novara, Italy.
Mara GiordanoDepartment of Health Sciences, Laboratory of Human Genetics, University of Eastern Piedmont, Novara and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Novara, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSeveral association studies confirmed high-mobility group-A2 gene (HMGA2) polymorphisms as the most relevant variants contributing to height variability. Animal models and deletions in humans suggest that alterations of HMGA2 might be relevant in causing short stature. Together, these observations led us to investigate the involvement of HMGA2 in idiopathic short stature (ISS) through an association study and a mutation screening.

methodsWe conducted an association study (155 ISS patients and 318 normal stature controls) with three HMGA2 single-nucleotide polymorphisms (SNPs) (SNPs rs1042725, rs7968682, and rs7968902) using a TaqMan-based assay. The patients were then analyzed by direct sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect point mutations and genomic micro-rearrangements.

resultsConsidering a recessive model, an OR value >1 was observed for genotypes rs7968682 TT (Odds ratio (OR) = 1.72, confidence interval (CI): 1.14-2.58) and rs1042725 TT (OR = 1.51, CI: 1.00-2.28) in accordance to the effect exhibited by the single alleles in the general population. None of the patients carried possibly causative HMGA2 mutations.

conclusionBesides the already known role in determining variability in human height, HMGA2 polymorphisms also contribute to susceptibility to ISS. Moreover, we here report the first mutation screening performed in ISS concluding that HMGA2 has not a significant impact on the monogenic form of ISS.

Indexed as

Gene RearrangementPoint MutationPolymorphism, Single Nucleotide3' Untranslated RegionsAdolescentBody HeightCase-Control StudiesChildChild, PreschoolDNA Mutational AnalysisFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGrowth DisordersHeterozygote3' Untranslated RegionsHMGA2 Protein

Identifiers

PMID26536448

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.