Related Experiment Video

Updated: Dec 10, 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

10.5K

JAK1 rs310241 and JAK3 rs3008 Genotypes May Increase Susceptibility to Psoriasis: A Case Control Study

Khadiga S Sayed1,2, Mohamed H M El-Komy1,2, Hany Shehata3

  • 1Dermatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

Skin Pharmacology and Physiology
|September 3, 2020
PubMed
Abstract

Insights

Genetic variations in Janus kinase (JAK) genes, specifically JAK1 rs310241 and JAK3 rs3008, are linked to an increased risk of developing psoriasis. These findings highlight the role of JAK signaling in psoriasis susceptibility.

Area of Science:

  • Immunogenetics
  • Dermatology
  • Molecular Biology

Background:

  • Janus kinases (JAKs) are crucial non-receptor tyrosine kinases involved in cytokine signaling pathways.
  • Dysregulated JAK signaling is implicated in the pathogenesis and progression of psoriasis.
  • Genetic variations in JAK genes may influence psoriasis risk and disease activity.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in Janus kinase 1 (JAK1 rs310241) and Janus kinase 3 (JAK3 rs3008) genes and the risk of developing psoriasis.
  • To evaluate the potential role of these genetic variations in psoriasis susceptibility.

Main Methods:

  • Genotyping of JAK1 rs310241 and JAK3 rs3008 polymorphisms was performed using the polymerase chain reaction (PCR)-restriction fragment length polymorphism technique.
  • A case-control study design was employed, analyzing blood samples from 150 psoriasis patients and 120 healthy controls.

Main Results:

  • The GG genotype for both JAK1 rs310241 and JAK3 rs3008 was significantly associated with an increased risk of psoriasis (p < 0.001 for both).
  • The G allele of both JAK1 rs310241 and JAK3 rs3008 was also found to be significantly associated with higher psoriasis susceptibility (p < 0.003 for both).

Conclusions:

  • The study suggests a significant association between JAK1 rs310241 and JAK3 rs3008 gene polymorphisms and an increased susceptibility to psoriasis.
  • These findings underscore the importance of JAK signaling pathways in psoriasis and may aid in identifying individuals at higher risk.
Keywords:
Janus kinasesMetabolic syndromePolymerase chain reactionPolymorphismPsoriasis

More Related Videos

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients02:28

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients

Published on: March 1, 2024

666
Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma10:21

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Published on: September 20, 2024

659

Related Concept Videos

The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
11.2K
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...
15.1K
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,...
17.7K
Pleiotropy01:33

Pleiotropy

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,...
42.7K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.2K
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...
1.2K