Related Experiment Video

Updated: Aug 3, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.2K

The relationship between MMP-2 rs243865, MMP-9 rs398242 and CXCL-12 rs1801157 gene polymorphisms with Japanese

Rashmi Tiwari1, Sneha Ghildiyal2, Pooja Gaur2

  • 1Sanjay Gandhi Post Graduate Institute of Medical Sciences; Amity Institute of Biotechnology, Amity University Uttar Pradesh, Lucknow, India.

Journal of Vector Borne Diseases
|April 7, 2023
PubMed
Abstract

Insights

Matrix metalloproteinases (MMPs) and chemokines like CXCL-12 are implicated in Japanese encephalitis (JE). This study found MMP-2 may protect against JE, while CXCL-12 is linked to disease severity in North India.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Japanese encephalitis virus (JEV) causes severe neurological disease in Asia.
  • Matrix metalloproteinases (MMPs) and chemokines (e.g., CXCL-12) are involved in the host response to JEV infection.
  • MMPs play roles in microglial activation, inflammation, and blood-brain barrier integrity in the central nervous system (CNS).

Purpose of the Study:

  • To investigate the association of single nucleotide polymorphisms (SNPs) in MMP-2, MMP-9, and CXCL-12 genes with Japanese encephalitis (JE) in a North Indian population.
  • To explore the relationship between these gene polymorphisms and JE disease susceptibility, outcome, and severity.

Main Methods:

  • A case-control study was conducted with 125 JE patients and 125 healthy controls from North India.
  • Genomic DNA was extracted from whole blood samples.
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine gene polymorphisms.

Main Results:

  • No significant association was found between MMP-2, MMP-9, and CXCL-12 gene polymorphisms and JE susceptibility.
  • The homozygous (T/T) genotype of MMP-2 was statistically associated with disease outcome (p=0.05, OR=0.110), suggesting a protective role.
  • Specific genotypes of CXCL-12 (A/G and G/G) were significantly associated with increased disease severity (p=0.032, OR=5.500; p=0.037, OR=9.167).
  • Elevated serum MMP-2 levels were observed in JE patients with the MMP-2 T/T genotype, while increased MMP-9 levels correlated with heterozygous genotypes.

Conclusions:

  • MMP-2, MMP-9, and CXCL-12 gene polymorphisms are not linked to JE susceptibility in this North Indian cohort.
  • MMP-2 polymorphisms may contribute to protection against JE.
  • CXCL-12 gene variations are associated with the severity of Japanese encephalitis.
  • This study represents the first report on these genetic associations in Northern India.
Keywords:
CXCL-12Gene polymorphismJapanese EncephalitisMMP-2MMP-9

More Related Videos

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

11.9K
Bacterial Artificial Chromosomes: A Functional Genomics Tool for the Study of Positive-strand RNA Viruses12:20

Bacterial Artificial Chromosomes: A Functional Genomics Tool for the Study of Positive-strand RNA Viruses

Published on: December 29, 2015

21.5K

Related Concept Videos

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,...
15.4K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
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...
13.7K