Related Experiment Video

Updated: Jul 21, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.8K

Association of ATG4A single nucleotide polymorphism rs807185 on risk of microscopic polyangiitis in Chinese

Yan Li1, Wei Li1, Li Huang1

  • 1Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.

International Immunopharmacology
|July 26, 2023
PubMed
Abstract

Insights

The autophagy-associated gene 4A (ATG4A) single nucleotide polymorphism rs807185 allele A may protect against microscopic polyangiitis in the Chinese population. Further research is needed to understand the underlying molecular mechanisms of this association.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Microscopic polyangiitis is an autoimmune disease characterized by inflammation of small blood vessels.
  • Autophagy-related genes are implicated in immune system function, but their role in microscopic polyangiitis is not well understood.

Purpose of the Study:

  • To investigate the association between a specific single nucleotide polymorphism (SNP) in the autophagy-associated gene 4A (ATG4A), rs807185, and microscopic polyangiitis (MPA) in the Chinese population.

Main Methods:

  • A case-control study was conducted with 181 MPA patients and 209 healthy controls from the Chinese population.
  • Genotyping for the ATG4A rs807185 SNP was performed using multiplex polymerase chain reaction and high-throughput sequencing.

Main Results:

  • The frequency of the A allele of rs807185 was significantly higher in the healthy control group compared to the MPA cohort.
  • The presence of the rs807185 A allele was associated with a reduced risk of developing microscopic polyangiitis.

Conclusions:

  • The rs807185 A allele in the ATG4A gene may confer a protective effect against microscopic polyangiitis in the Chinese population.
  • The precise molecular mechanisms underlying this protective association require further investigation.
Keywords:
ATG4AAutophagyMicroscopic polyangiitisSingle nucleotide polymorphism

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
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

489

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,...
15.3K
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...
13.6K