Evidence map›Paper›PMID 34097127›Full record

ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2021

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?

L Masi, F Marini, F Franceschelli, G Leoncini, L Cianferotti, F Cioppi, F Giusti, G Marcucci, G Gronchi, M L Brandi

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In one paragraph

Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
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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

10 authors at 2 institutions in 1 country.

L MasiUniversity Hospital of Florence, Azienda Ospedaliero Universitaria Careggi (AOUC), Florence, Italy.
F MariniDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
F FranceschelliDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
G LeonciniDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
L CianferottiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
F CioppiUniversity Hospital of Florence, Azienda Ospedaliero Universitaria Careggi (AOUC), Florence, Italy.
F GiustiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
G MarcucciDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
G GronchiDeparment of Neuroscience, Psychology Drug Research and Child's Health, University of Florence, Florence, Italy.
M L BrandiDepartment of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy. marialuisa.brandi@unifi.it.ORCID http://orcid.org/0000-0002-8741-0592
University of Florence · ITAzienda Ospedaliero-Universitaria Careggi · IT

Funding

Alexion Pharmaceuticals MIG-100186
6 · The paper itself

Abstract

We analyzed polymorphism of the ALPL gene in patients with low serum levels of tissue-nonspecific alkaline phosphatase (TNAP). The presence of three or more of the less frequent alleles of ALPL polymorphisms was associated with significantly lower TNAP serum level and higher frequencies of metatarsal fractures, which may help confirm a clinical suspicion of adult hypophosphatasia.

introductionAlkaline phosphatases (ALPs) are membrane-bound enzymes that hydrolyze monophosphate esters at a high pH (pH 8-10). Inorganic pyrophosphate, pyridoxal 5-phosphate, the activated form of vitamin B

methodsGenomic DNA was extracted from peripheral blood and ALPL gene was sequenced by PCR-based Sanger technique.

resultsFourteen different polymorphic variants were found in the study population. A lower serum level of TNAP and higher frequencies of metatarsal fractures were observed in patients bearing three or more of the minor frequency alleles (MFAs) of the ALPL polymorphic variants. The presence of some MFAs, mostly as a contemporary presence of three or more of them, was found to be mainly represented in patients having both a significantly lower level of TNAP and a higher level of vitamin B6.

conclusionThe genetic analysis and presence of some polymorphic variants may be an instrument to confirm clinical and biochemical data, consider adult HPP, and help clinicians be cautious in the administration of anti-reabsorption drugs.

Indexed as

HypophosphatasiaAdultAlkaline PhosphataseAllelesHumansMutationPyridoxal PhosphateAlkaline PhosphatasePyridoxal PhosphateAlkaline phosphataseALPL geneDifferential diagnosisHyphophosphatasiaPolymorphic variants

Identifiers

PMID34097127
PMCPMC8608776
OpenAlexW3171376194

What OpenQuestion holds

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Registered trials

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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.