Evidence map›Paper›PMID 39501172›Full record

ArticleBMC cancer2024

Investigating the role of non-synonymous variant D67N of ADGRE2 in chronic myeloid leukemia.

Ayesha Afzal, Harooma Jamshaid, Yasmin Badshah, Maria Shabbir, Janeen H Trembley, Sameen Zafar, Ghulam Murtaza Kamal, Tayyaba Afsar, Fohad Mabood Husain, Suhail Razak

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Article in BMC cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Ayesha AfzalDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Harooma JamshaidDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Yasmin BadshahDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan. yasmeenb_1982@yahoo.com.
Maria ShabbirDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Janeen H TrembleyMinneapolis VA Health Care System, Minneapolis, MN, USA.
Sameen ZafarDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Ghulam Murtaza KamalDepartment of Healthcare Biotechnology, Atta Ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad, Pakistan.
Tayyaba AfsarDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.
Fohad Mabood HusainDepartment of Food Science and Nutrition, College of Food and Agriculture Sciences, King Saud University, Riyadh, 11451, Saudi Arabia.
Suhail RazakDepartment of Community Health Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia. smarazi@ksu.edu.sa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChronic myeloid leukaemia (CML) is a type of blood cancer that begins in the hematopoietic stem cells. It is primarily characterized by a specific chromosomal aberration, the Philadelphia chromosome. While the fusion gene is a major contributor to CML, several other genes including ADGRE2, that are reported as highly expressed in hematopoietic stem cells and could be utilized as a therapeutic marker in leukemic patients are implicated in the disease's progression. Until recently, little research had been conducted to identify single nucleotide polymorphisms (SNPs) associated with CML. Therefore, this study aims to investigate the influence of non-synonymous variants on the structure and function of the gene encoding adhesion G protein-coupled receptor E2, ADGRE2, and to evaluate their association with CML and its clinical and pathological characteristics.

methodsNon-synonymous SNPs of ADGRE2 were retrieved from the ENSEMBL, COSMIC, and gnomAD genome browsers, and the pathogenicity of deleterious variants was assessed using several established computational tools, including SIFT, CADD, REVEL, PolyPhen, and MetaLR.

resultsVarious in silico analyses explored the impact of damaging SNP on the function, stability, and structure of EGF-like modules containing mucin-like hormone receptor-like2 (EMR2) protein encoded by the ADGRE2 gene. Genotype analysis was performed on collected blood samples, revealing that altered genotype TT of variant rs765071211 (C/T) was associated significantly with CML patients compared to the control. Further in vitro and in vivo analyses suggest that this SNP holds potential for clinical translation.

Indexed as

Leukemia, Myelogenous, Chronic, BCR-ABL PositivePolymorphism, Single NucleotideAdultFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedReceptors, G-Protein-CoupledReceptors, G-Protein-CoupledARMS PCRBioinformatics toolsCMLIn silico analysisNon-synonymous

Identifiers

PMID39501172
PMCPMC11536965

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LicenceCC BY-NC-ND
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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.