Related Experiment Video

Updated: Apr 17, 2026

Author Spotlight: Unveiling the Role of TMOD3 in Platinum Resistance and Immune Infiltration in Ovarian Cancer
09:40

Author Spotlight: Unveiling the Role of TMOD3 in Platinum Resistance and Immune Infiltration in Ovarian Cancer

Published on: August 2, 2024

3.3K

Polymorphisms in miRNA processing genes and their role in osteosarcoma risk

Nerea Bilbao-Aldaiturriaga1, Angela Gutierrez-Camino, Idoia Martin-Guerrero

  • 1Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country (UPV/EHU), Leioa, Spain.

Pediatric Blood & Cancer
|February 10, 2015
PubMed
Abstract

Insights

Genetic variants in microRNA (miRNA) processing genes, particularly those in the RISC complex, may influence osteosarcoma risk. The single nucleotide polymorphism rs11866002 in CNOT1 shows a notable association with susceptibility.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Previous studies on genetic variants and osteosarcoma risk yielded inconclusive results, focusing on traditional pathways.
  • The microRNA (miRNA) processing pathway is increasingly recognized for its role in cancer development.
  • Dysregulation of miRNA processing genes is linked to various cancers, suggesting their potential involvement in osteosarcoma.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in miRNA processing genes and osteosarcoma susceptibility.
  • To determine if genetic variations in the miRNA pathway contribute to an individual's predisposition to developing osteosarcoma.

Main Methods:

  • Analysis of 72 SNPs across 21 miRNA processing genes.
  • Study population comprised 99 osteosarcoma patients and 387 healthy controls.
  • Statistical analysis to identify significant associations between SNPs and osteosarcoma risk.

Main Results:

  • Three SNPs in miRNA processing genes (CNOT1, CNOT4, SND1) were associated with osteosarcoma susceptibility.
  • These identified SNPs are components of the RNA-induced silencing complex (RISC).
  • The SNP rs11866002 in the CNOT1 gene showed a near-significant association after Bonferroni correction.

Conclusions:

  • SNPs within genes encoding RISC complex proteins may play a role in osteosarcoma susceptibility.
  • The specific SNP rs11866002 in CNOT1 warrants further investigation for its contribution to osteosarcoma risk.
Keywords:
genetic susceptibilitymicroRNA processing pathwayosteosarcoma

More Related Videos

miRNA Expression Analyses in Prostate Cancer Clinical Tissues11:29

miRNA Expression Analyses in Prostate Cancer Clinical Tissues

Published on: September 8, 2015

11.3K
MeRIP-qPCR Assay for Detecting m6A Modification Levels of Specific RNA in Osteosarcoma Cells05:16

MeRIP-qPCR Assay for Detecting m6A Modification Levels of Specific RNA in Osteosarcoma Cells

Published on: December 30, 2025

452

Related Concept Videos

MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
4.4K
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
24.9K
MicroRNAs01:22

MicroRNAs

12.1K
RNA Splicing01:32

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
61.9K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
72
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
132