Association Study of MMP-9 -1562C/T Gene Polymorphism with Susceptibility to Multiple Autoimmune Diseases: A

Jing Li1, Shuang-Yan Lin1, Yan-Bo Lv1

  • 1Department of Pathology, Zhejiang Hospital, Hangzhou, Zhejiang, China.

Abstract

Insights

The MMP-9 -1562 C/T gene polymorphism is linked to increased susceptibility to autoimmune diseases (ADs). This association is particularly notable in Caucasian populations and for various ADs, excluding multiple sclerosis.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Matrix metalloproteinase-9 (MMP-9) gene polymorphism (-1562 C/T) is implicated in autoimmune diseases (ADs).
  • Previous studies on MMP-9 polymorphism and ADs have yielded inconsistent results.
  • A comprehensive meta-analysis is needed to clarify the association.

Purpose of the Study:

  • To evaluate the overall association between the MMP-9 -1562 C/T gene polymorphism and the susceptibility to multiple ADs.
  • To synthesize evidence from existing studies using a meta-analytic approach.

Main Methods:

  • Systematic literature search of PubMed, Embase, and Web of Science databases up to March 1, 2016.
  • Meta-analysis of 12 studies including 2,034 cases and 1,861 controls.
  • Calculation of odds ratios (ORs) and 95% confidence intervals (CIs) using fixed- or random-effect models based on heterogeneity.

Main Results:

  • A significant association was found between the MMP-9 -1562 T allele and AD susceptibility in the overall population (OR=1.269) and Caucasians (OR=1.222).
  • The association was significant for 'other ADs' (OR=1.501) but not for multiple sclerosis.
  • No significant association was observed in Asian populations or for multiple sclerosis.

Conclusions:

  • The MMP-9 -1562 C/T polymorphism may contribute to susceptibility to multiple ADs.
  • The association appears stronger in Caucasian populations and for a broader category of ADs.
  • Further large-scale epidemiological studies are recommended to validate these findings.

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.0K
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
2.0K
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,...
18.8K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
53
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...
56
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...
65