Related Experiment Video

Updated: Jun 12, 2026

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
07:00

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Published on: February 28, 2019

Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis

Ling-Feng Wang1, Chen-Yu Chien, Chih-Feng Tai

  • 1Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

BMC Medical Genetics
|June 10, 2010
PubMed
Abstract

Insights

Genetic variants in the matrix metalloproteinase-9 (MMP-9) gene may increase the risk of developing chronic rhinosinusitis with nasal polyposis. This study found specific MMP-9 gene polymorphisms associated with this condition in a Chinese population.

Area of Science:

  • Genetics
  • Immunology
  • Otolaryngology

Background:

  • Matrix metalloproteinase (MMP) plays a role in upper airway remodeling.
  • Chronic rhinosinusitis with nasal polyposis (CRSwNP) involves upper airway remodeling.
  • The MMP-9 gene's role in CRSwNP susceptibility is not fully understood.

Purpose of the Study:

  • To investigate the association between genetic variants of the MMP-9 gene and CRSwNP.
  • To identify specific MMP-9 gene polymorphisms that may influence susceptibility to CRSwNP.

Main Methods:

  • A case-control study was conducted with 203 CRSwNP cases and 730 controls.
  • Four single nucleotide polymorphisms (SNPs) in the MMP-9 gene were genotyped.
  • Statistical analyses included Hardy-Weinberg equilibrium testing, inheritance model evaluation, and haplotype analysis.

Main Results:

  • The T allele of the promoter SNP rs3918242 was significantly associated with CRSwNP under dominant and additive models (p < 0.023).
  • SNP rs2274756 also showed associations with CRSwNP under dominant and additive models (p < 0.034).
  • Haplotype analysis revealed a significant global p-value (0.015), indicating an overall association between MMP-9 haplotypes and CRSwNP.

Conclusions:

  • MMP-9 gene polymorphisms may contribute to the susceptibility of developing chronic rhinosinusitis with nasal polyposis.
  • Specific MMP-9 SNPs and haplotypes are associated with CRSwNP in the studied Chinese population.
  • Further research is warranted to elucidate the precise mechanisms.

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Related Concept Videos

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...
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...
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,...