Evidence map›Paper›PMID 37651007›Full record

ArticleEndocrine2023

Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism.

Arianna Viviani, Luciano Colangelo, Bianca Maria Ciminelli, Andrea Novelletto, Chiara Sonato, Marco Occhiuto, Cristiana Cipriani, Daniele Diacinti, Viviana De Martino, Walter Gianni and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Endocrine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.0field-weighted citation impact, top 24% of its field
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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. 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

13 authors at 2 institutions in 1 country.

Arianna Viviani *Department of Biology, University of Rome Tor Vergata, Rome, Italy.
Luciano Colangelo *Department of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy. luciano.colangelo@uniroma1.it.ORCID 0000-0002-5835-9310
Bianca Maria CiminelliDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.
Andrea NovellettoDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.
Chiara SonatoDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Marco OcchiutoDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Cristiana CiprianiDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Daniele DiacintiDepartment of Radiological Sciences, Oncology and Pathology, "Sapienza" University of Rome, Rome, Italy.
Viviana De MartinoDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Walter GianniDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Jessica PepeDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Salvatore MinisolaDepartment of Clinical, Internal, Anesthesiologic and Cardiovascular Sciences, "Sapienza" University of Rome, Rome, Italy.
Patrizia MalaspinaDepartment of Biology, University of Rome Tor Vergata, Rome, Italy.
Sapienza University of Rome · ITUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeHypercalcemic primary hyperparathyroidism (PHPT) is a common endocrine disorder that has been very well characterized. In contrast, many aspects of normocalcemic primary hyperparathyroidism (NPHPT) such as natural history, organ damage, and management are still matter of debate. In addition, both the pathophysiology and molecular basis of NPHPT are unclear. We investigated whether PHPT and NPHPT patient cohorts share the same pattern of genetic variation in genes known to be involved in calcium and/or bone metabolism. RESEARCH DESIGN AND

methodsGenotyping for 9 single nucleotide polymorphisms (SNPs) was performed by Real-Time PCR (TaqMan assays) on 27 NPHPT and 31 PHPT patients evaluated in a tertiary referral Center. The data of both groups were compared with 54 in house-controls and 503 subjects from the 1000 Genomes Project. All groups were compared for allele/haplotype frequencies, on a single locus, two loci and multi-locus basis.

resultsThe NPHPT group differed significantly at SNPs in OPG and ESR1. Also, the NPHPT cohort was peculiar for pairwise associations of genotypes and for the overrepresentation of unusual multilocus genotypes.

conclusionsOur NPHPT patient set harbored a definitely larger quota of genetic diversity than the other samples. Specific genotypes may help in defining subgroups of NPHPT patients which deserve ad hoc clinical and follow-up studies.

Indexed as

HypercalcemiaHyperparathyroidism, PrimaryCalciumGenotypeHumansParathyroid HormonePhenotypeCalciumParathyroid HormoneESR1Normocalcemic primary hyperparathyroidismOPGRANKLSNPsVDR

Identifiers

PMID37651007
PMCPMC10618301
OpenAlexW4386305238

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.