Evidence map›Paper›PMID 37543928›Full record

ArticleArchives of Iranian medicine2023

A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.

Amir Anushiravani, Hossein Jafari Khamirani, Ashraf Mohamadkhani, Arya Mani, Mehdi Dianatpour, Reza Malekzadeh

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

Article in Archives of Iranian medicine, 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
0.6field-weighted citation impact, top 31% 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, 2 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

6 authors at 3 institutions in 2 countries.

Amir AnushiravaniDigestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-9196-1901
Hossein Jafari KhamiraniDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.ORCID 0000-0001-7703-7387
Ashraf MohamadkhaniDigestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Arya ManiCardiovascular Research Center, Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
Mehdi DianatpourDepartment of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.ORCID 0000-0003-1217-9477
Reza MalekzadehDigestive Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-9820-6335
Tehran University of Medical Sciences · IRShiraz University of Medical Sciences · IRYale University · US

Funding

The characterization of Cela2a, a novel disease gene for metabolic syndrome in health and diseasesR01DK134329 · NIDDK · YALE UNIVERSITY · PI Arya Mani · 2023 to 2026
$2.6M
The transcriptional regulation of smooth muscle genes by PRDM6 in vascular health and diseasesR01HL171054 · NHLBI · YALE UNIVERSITY · PI Arya Mani · 2024 to 2026
$2.5M
NHLBI NIH HHS R01 HL171054NIDDK NIH HHS R01 DK134329
6 · The paper itself

Abstract

backgroundThe LIPA gene on chromosome 10q23.31 contains 10 exons and encodes lipase A, the lysosomal acid lipase (LAL) containing 399 amino acids. Pathogenic variants in the LIPA result in autosomal recessive Wolman disease and cholesteryl ester storage disease (CESD). Here, we report a novel missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of LIPA in an Iranian family with fatty liver disease identified by whole-exome sequencing and confirmed by Sanger sequencing.

methodsA 28-year-old woman referred with lean NASH cirrhosis and extremely high cholesterol levels. Fatty liver disease was found in six of her family members using vibration-controlled transient elastography (VCTE). Baseline routine laboratory tests were performed and whole-exome sequencing and confirmation by Sanger sequencing were done.

resultsThe index case had severe dyslipidemia and cirrhosis despite a body mass index of 21.09 kg/m

conclusionA homozygous missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of the LIPA gene which caused LAL-D was found to be associated with dyslipidemia, fatty liver disease and/or cirrhosis in six members of an Iranian family. These results should be confirmed by functional studies and extending the study to at least three families.

Indexed as

Non-alcoholic Fatty Liver DiseaseWolman DiseaseAdultFemaleHumansIranLiver CirrhosisSterol EsteraseSterol EsteraseGenetic association studiesLIPA proteinLiver cirrhosisLysosomal acid lipase deficiencyNon-alcoholic fatty liver diseaseWhole exome sequencing

Identifiers

PMID37543928
PMCPMC10685898
OpenAlexW4382203929

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.