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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Related Experiment Video

Updated: Sep 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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CCL2 rs1024611Gene Polymorphism in Philadelphia-Negative Myeloproliferative Neoplasms.

Hossam Hodeib1, Dina Abd El Hai1, Mohamed A Tawfik2

  • 1Clinical Pathology Department, Faculty of Medicine, Tanta University, Tanta 31527, Egypt.

Genes
|March 25, 2022
PubMed
Summary

The CCL2 rs1024611 gene variant is linked to an increased risk of developing myelofibrosis (MF), a type of Philadelphia chromosome-negative myeloproliferative neoplasm (MPN). Higher CCL2 gene expression also correlates with MF and disease progression.

Keywords:
CCL2 rs1024611GenePhiladelphiamyeloproliferativepolymorphism

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Area of Science:

  • Genetics
  • Oncology
  • Hematology

Background:

  • Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) arise from acquired somatic mutations in myeloid genes.
  • The CCL2 gene is known to be overexpressed in certain cancers, including lymphomas and solid tumors.

Purpose of the Study:

  • To investigate the association between the CCL2 rs1024611 single nucleotide polymorphism (SNP), CCL2 gene expression levels, and the risk of developing Philadelphia chromosome-negative MPNs.
  • To explore the potential of CCL2 rs1024611 and its expression as biomarkers for MPN risk and progression.

Main Methods:

  • Genotyping of the CCL2 rs1024611 SNP and measurement of CCL2 gene expression levels were performed in 128 MPN patients and 141 healthy controls.
  • Statistical analyses, including correlation studies and Receiver Operating Characteristic (ROC) analysis, were employed.

Main Results:

  • The CCL2 rs1024611 G/G genotype was significantly more frequent in patients with primary myelofibrosis (PMF) and post-polycythemia vera/essential thrombocythemia myelofibrosis (Post-PV/ET-MF).
  • Mean CCL2 expression levels were significantly higher in PMF and Post-PV/ET-MF patients compared to healthy subjects.
  • CCL2 rs1024611 SNP showed significant correlation with CCL2 gene expression and fibrosis grade. ROC analysis indicated high accuracy (AUC=0.919) in distinguishing MF from PV + ET patients based on CCL2 expression.

Conclusions:

  • The CCL2 rs1024611 polymorphism may serve as an independent risk factor for developing myelofibrosis (PMF and Post-PV/ET-MF).
  • CCL2 gene expression levels show potential as a genetic biomarker for assessing fibrotic progression in MPNs.