Related Experiment Video
Updated: Aug 29, 2025
11:19
Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
Published on: October 9, 2016
15.1K
Novel Association between STAT3 Gene Variant and Vitiligo: A Case-Control Study.
Vaibhav Venkatesh1, Deena C Mendez2, T S Rajashekar3
1Department of Cell Biology and Molecular Genetics, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar, Karnataka, India.
Indian Journal of Dermatology
|September 12, 2022
Summary
A specific STAT3 gene variant (rs744166 T > C) is linked to vitiligo, an autoimmune skin condition. This finding highlights the role of the JAK/STAT pathway in the disease
Area of Science:
- Genetics
- Immunology
- Dermatology
Background:
- Vitiligo is an autoimmune disorder characterized by inflammatory damage to melanocytes.
- The STAT3 gene variant rs744166 T > C is known to enhance inflammatory signaling through the JAK/STAT pathway.
Purpose of the Study:
- To investigate the potential association between the STAT3 gene variant rs744166 T > C and vitiligo.
- To determine if the genetic variant contributes to vitiligo pathogenesis.
Main Methods:
- A case-control study design was employed.
- 56 vitiligo patients and 90 healthy controls were recruited.
- The STAT3 gene variant rs744166 T > C was genotyped using restriction fragment length polymorphism (RFLP).
Main Results:
- The frequency of the minor allele 'C' was significantly higher in vitiligo patients (72.3%) compared to healthy controls (57.8%).
- A statistically significant association was found between the STAT3 variant and vitiligo (P = 0.006; OR = 1.9).
- The dominant genetic model revealed the strongest association (P = 0.001).
Conclusions:
- The STAT3 gene variant rs744166 T > C is associated with an increased risk of vitiligo.
- This association underscores the critical role of the JAK/STAT signaling pathway in the development of vitiligo.
More Related Videos
05:53Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.2K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
13.1K
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
14.0K
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...
GWAS does not require the identification of the target gene involved in...
14.0K
02:30Histone Variants at the Centromere
4.5K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.5K
01:33Pleiotropy
40.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.9K
01:43Incomplete Dominance
25.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.3K
01:23Role of Skin in Vitamin D Synthesis
5.4K
The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
5.4K
01:09Epistasis Analysis
5.1K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.1K