Evidence map›Paper›PMID 34888019›Full record

ArticleWorld journal of diabetes2021

Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.

Ibrar Rafique, Asif Mir, Shajee Siddiqui, Muhammad Arif Nadeem Saqib, Asher Fawwad, Luc Marchand, Muhammad Adnan, Muhammad Naeem, Abdul Basit, Constantin Polychronakos

Open access · diamondAbstract read
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In one paragraph

Article in World journal of diabetes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

10 authors at 2 institutions in 1 country.

Ibrar RafiqueDepartment of Biological Sciences, International Islamic University, Islamabad 44000, Pakistan.
Asif MirDepartment of Biological Sciences, International Islamic University, Islamabad 44000, Pakistan.
Shajee SiddiquiDepartment of Medicine, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan, Pakistan.
Muhammad Arif Nadeem SaqibDepartment of Medical Laboratory Technology, National Skills University, Islamabad, 44000, Pakistan.
Asher FawwadDepartment of Biochemistry, Baqai Institute of Diabetology and Endocrinology, Baqai Medical University, Karachi 74600, Sindh, Pakistan.
Luc MarchandDepartments of Pediatrics and Human Genetics, McGill University Health Centre Research Institute, Montreal H4A 3J1, Canada.
Muhammad AdnanPHRC Research Centre, FJMU, Pakistan Health Research Council, Lahore 54000, Pakistan.
Muhammad NaeemDepartment of Biotechnology, Quaid-I-Azam University, Islamabad 44000, Pakistan.
Abdul BasitDepartment of Medicine, Baqai Institute of Diabetology and Endocrinology, Baqai Medical University, Karachi 74600, Sindh, Pakistan.
Constantin PolychronakosDepartments of Pediatrics and Human Genetics, McGill University Health Centre Research Institute, Montreal H4A 3J1, Canada. constantin.polychronakos@mcgill.ca.
International Islamic University, Islamabad · PKQuaid-i-Azam University · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMonogenic forms of diabetes (MFD) are single gene disorders. Their diagnosis is challenging, and symptoms overlap with type 1 and type 2 diabetes.

aimTo identify the genetic variants responsible for MFD in the Pakistani population and their frequencies.

methodsA total of 184 patients suspected of having MFD were enrolled. The inclusion criterion was diabetes with onset below 25 years of age. Brief demographic and clinical information were taken from the participants. The maturity-onset diabetes of the young (MODY) probability score was calculated, and glutamate decarboxylase ELISA was performed. Antibody negative patients and features resembling MODY were selected (

resultsA total of eight missense novel or very low-frequency variants were identified in 7 patients. Three variants were found in genes for MODY,

conclusionThe study showed wide spectrum of genetic variants potentially causing MFD in the Pakistani population. The MODY genes prevalent in European population (

Indexed as

DiabetesGeneticsMODYMonogenic diabetesMonogenic forms of diabetes

Identifiers

PMID34888019
PMCPMC8613659
OpenAlexW3212252942

What OpenQuestion holds

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LicenceCC BY-NC
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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.