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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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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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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.
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Related Experiment Video

Updated: Dec 1, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A new parameter in multiple myeloma: CYP3A4*1B single nucleotide polymorphism.

Istemi Serin1, Sacide Pehlivan2, Ilknur Gundes3

  • 1Department of Hematology, Istanbul Training and Research Hospital, University of Health Sciences, Fatih, Istanbul, Turkey. serinistemi@hotmail.com.

Annals of Hematology
|November 10, 2020
PubMed
Summary

The NN genotype of CYP3A4*1B significantly improves outcomes for multiple myeloma (MM) patients. This genetic factor, along with younger age, is linked to better progression-free survival (PFS) and overall survival (OS) in MM treatment.

Keywords:
CYP3A4BMultiple myelomaP450PrognosisTreatment

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Area of Science:

  • Pharmacogenomics and Oncology
  • Molecular Biology and Cancer Research

Background:

  • Multiple myeloma (MM) is a plasma cell malignancy associated with increased monoclonal immunoglobulin and free light chain release.
  • Cytochrome P450 (CYP) enzymes, including CYP3A4, are crucial in drug metabolism and have roles in cancer treatment.
  • The specific genotype CYP3A4*1B's influence on MM treatment response and prognosis remains largely unexplored.

Purpose of the Study:

  • To investigate the association between CYP3A4*1B genotypes and treatment outcomes in multiple myeloma patients.
  • To determine the impact of CYP3A4*1B genotypes on progression-free survival (PFS) and overall survival (OS).

Main Methods:

  • Genotyping analysis of CYP3A4*1B was performed on 72 MM patients diagnosed between 2016-2020 and 100 healthy controls.
  • Patients were categorized into NN, MN, and MM genotype groups.
  • Statistical analysis was used to compare PFS and OS across genotype groups and correlate with patient age.

Main Results:

  • Patients with the NN genotype exhibited significantly higher PFS and OS compared to other genotypes (p < 0.05).
  • Younger age (<65 years) was a significant protective factor for both OS (27.988-fold) and PFS (4.496-fold).
  • The NN genotype demonstrated a substantial protective effect on OS (41.666-fold) and PFS (3.144-fold).

Conclusions:

  • The CYP3A4*1B NN genotype is a significant protective factor for overall survival and progression-free survival in multiple myeloma.
  • This finding represents a novel contribution to understanding the pharmacogenomic underpinnings of MM treatment response.
  • CYP3A4*1B genotype status can potentially inform personalized treatment strategies for multiple myeloma patients.