Common genetic polymorphisms in pre-microRNAs and risk of cervical squamous cell carcinoma

Bin Zhou1, Kana Wang, Yanyun Wang

  • 1Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, PR China.

Molecular Carcinogenesis
|February 15, 2011
PubMed

Insights

Common single nucleotide polymorphisms (SNPs) in pre-microRNAs (miRNAs) are linked to cervical squamous cell carcinoma (CSCC). Specifically, rs3746444 and rs2910164 variants increase CSCC risk, suggesting their role in the disease

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • MicroRNAs (miRNAs) are crucial gene regulators involved in various biological pathways.
  • Single nucleotide polymorphisms (SNPs) in pre-miRNAs can alter miRNA expression and maturation, potentially impacting disease development.

Purpose of the Study:

  • To investigate the association between common pre-miRNA SNPs and the risk of cervical squamous cell carcinoma (CSCC).

Main Methods:

  • A pilot study genotyped three pre-miRNA SNPs (hsa-miR-196a2 rs11614913, hsa-miR-499 rs3746444, and hsa-miR-146a rs2910164) in 226 CSCC patients and 309 controls.
  • Genotyping was performed using the PCR-restriction fragment length polymorphism (RFLP) assay.

Main Results:

  • The G allele of rs3746444 (OR=1.454, P=0.017) and the G allele of rs2910164 (OR=1.355, P=0.016) were significantly associated with increased CSCC risk.
  • Specific genetic models revealed stronger associations: overdominant model for rs3746444 (OR=1.98, P=0.0004) and codominant model for rs2910164 (OR=2.10, P=0.024).
  • Stratified analyses indicated rs2910164 is associated with tumor differentiation and lymph node status.

Conclusions:

  • Common genetic polymorphisms in pre-miRNAs, specifically rs3746444 and rs2910164, contribute to the pathogenesis of cervical squamous cell carcinoma.
  • These findings highlight the role of genetic variations in pre-miRNAs in cancer development and suggest potential biomarkers for CSCC risk assessment.

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...
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 ends...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
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...