Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

10.1K
The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
10.1K
T Cell Types and Functions01:24

T Cell Types and Functions

2.8K
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
2.8K
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

10.7K
The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors...
10.7K
Enzyme-linked Receptors01:00

Enzyme-linked Receptors

87.6K
Enzyme-linked receptors are proteins that act as both receptor and enzyme, activating multiple intracellular signals. This is a large group of receptors that include the receptor tyrosine kinase (RTK) family. Many growth factors and hormones bind to and activate the RTKs.
Neurotrophin (NT) receptors are a family of RTKs, including trkA, trkB, and trkC (tropomyosin-related kinase) receptors. TrkA is specific for nerve growth factor (NGF), neurotrophin-6, and neurotrophin-7. TrkB binds...
87.6K
Regulation of Angiogenesis and Blood Supply01:24

Regulation of Angiogenesis and Blood Supply

3.8K
Rapidly dividing tumors, embryos, and wounded tissues require more oxygen than usual, lowering the oxygen concentration in the blood. At low oxygen or hypoxic conditions, an oxygen-sensitive transcription factor called the hypoxia-inducible factor 1 or HIF1 is activated. HIF1 is a dimeric protein of alpha (ɑ) and beta (β) subunits.  Under optimal oxygen conditions, HIF1β is present in the nucleus while HIF1ɑ remains in the cytosol. HIF1ɑ is hydroxylated by prolyl...
3.8K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Bacterial bloodstream infections in cardiac patients: microbiological spectrum, antimicrobial susceptibility patterns, and biomarker correlation analysis at a cardiac tertiary care centre.

BMC infectious diseases·2026
Same author

Magnetic cellulose from Cedrus deodara sawdust for Cd(II) removal: synthesis, characterization, and adsorption performance.

Scientific reports·2026
Same author

Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism.

Clinical genetics·2026
Same author

Boys Don't Cry? Rethinking Emotions and Manhood Through SEL in Pakistani Secondary Schools.

Behavioral sciences (Basel, Switzerland)·2026
Same author

Genotype Association of VEGF Polymorphism rs2010963 with Strabismus in a Pakistani Cohort: A Case-Control Study.

Clinical ophthalmology (Auckland, N.Z.)·2026
Same author

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Scientific reports·2026

Related Experiment Video

Updated: Feb 26, 2026

Author Spotlight: Establishing a Practical and Cost-Effective Protocol for Corneal Sensitivity Testing in Clinical Settings
04:00

Author Spotlight: Establishing a Practical and Cost-Effective Protocol for Corneal Sensitivity Testing in Clinical Settings

Published on: August 2, 2024

3.3K

TNF-α Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus.

Muneeza Arbab1, Saira Tahir1, Muhammad Khizar Niazi2

  • 1Translational Genomics Laboratory, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.

Investigative Ophthalmology & Visual Science
|July 14, 2017
PubMed
Summary

The TNF-α -308G>A polymorphism (rs1800629) is a significant genetic risk factor for keratoconus (KC). This single nucleotide polymorphism is linked to increased TNF-α levels and altered expression of inflammatory genes in KC development.

More Related Videos

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

920
Author Spotlight: Advancing Corneal Innervation Research Through Innovative Models
06:10

Author Spotlight: Advancing Corneal Innervation Research Through Innovative Models

Published on: December 8, 2023

2.8K

Related Experiment Videos

Last Updated: Feb 26, 2026

Author Spotlight: Establishing a Practical and Cost-Effective Protocol for Corneal Sensitivity Testing in Clinical Settings
04:00

Author Spotlight: Establishing a Practical and Cost-Effective Protocol for Corneal Sensitivity Testing in Clinical Settings

Published on: August 2, 2024

3.3K
Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

920
Author Spotlight: Advancing Corneal Innervation Research Through Innovative Models
06:10

Author Spotlight: Advancing Corneal Innervation Research Through Innovative Models

Published on: December 8, 2023

2.8K

Area of Science:

  • Ophthalmology
  • Genetics
  • Immunology

Background:

  • Keratoconus (KC) pathogenesis remains undefined, but inflammatory pathways are increasingly implicated.
  • The role of specific genetic variations in inflammatory gene expression in KC is an area of active research.

Purpose of the Study:

  • To investigate the association of the TNF-α promoter polymorphism rs1800629 (-308G>A) with keratoconus (KC).
  • To examine the effect of this polymorphism on the expression of TNF-α and its downstream inflammatory molecules in KC.

Main Methods:

  • Genotyping of the TNF-α -308G>A polymorphism in 257 KC patients and 253 controls.
  • ELISA to assess genotypes and serum TNF-α levels.
  • qPCR to compare mRNA expression of TNF-α, TNFR1, TNFR2, RELA, and IL-6 in corneal tissues from 20 KC patients and 20 controls.

Main Results:

  • The GA genotype of the -308G>A polymorphism was significantly associated with KC development (OR = 6.67, P < 0.001).
  • Elevated TNF-α serum levels were observed in patients with the GA genotype.
  • Significant overexpression of TNF-α, TNFR2, RELA, and IL-6 was found in KC corneal tissues compared to controls.

Conclusions:

  • The TNF-α -308G>A polymorphism is a significant genetic risk factor for keratoconus pathogenesis.
  • This SNP is associated with dysregulated expression of downstream inflammatory molecules, reinforcing the role of inflammation in KC.