Related Experiment Video
Updated: Aug 12, 2025
05:39
Detection of MicroRNA Expression in the Kidneys of Immunoglobulin A Nephropathic Mice
Published on: July 8, 2020
1.9K
Exploring genes for immunoglobulin A nephropathy: a summary data-based mendelian randomization and FUMA analysis
Qian Zhang1, Kang Zhang2, Yining Zhu3
1Department of Nephrology, Huashan Hospital, Fudan University, 12 Middle Wurumuqi Road, Jingan District, Shanghai, 200040, China.
BMC Medical Genomics
|January 28, 2023
Summary
This study identified genetic variants and loci potentially involved in Immunoglobulin A nephropathy (IgAN) pathogenesis. Further research is needed to understand the exact mechanisms of these genetic factors in IgAN etiology.
Area of Science:
- Genetics
- Immunology
- Nephrology
Background:
- Immunoglobulin A nephropathy (IgAN) is an autoimmune kidney disease with unclear pathogenesis.
- Identifying genetic factors is crucial for understanding IgAN development.
Purpose of the Study:
- To explore genes and genetic loci underlying the pathogenesis of IgAN.
- To leverage summary data-based Mendelian randomization (SMR) and functional mapping.
Main Methods:
- Conducted SMR analysis using genome-wide association study (GWAS) data from European and East Asian populations.
- Utilized Consortium for the Architecture of Gene Expression (CAGE) and Genotype-Tissue Expression (GTEx) eQTL data.
- Performed functional mapping and annotation with FUMA.
Main Results:
- Identified 32 probes (25 genes) associated with IgAN using CAGE eQTL data, including HLA-C, IER3, and FLOT1.
- Identified 24 probes (24 genes) associated with IgAN using GTEx eQTL data, including XXbac-BPG248L24.12, BTN3A2, and C4B.
- FUMA analysis revealed 3 independent SNPs, 2 genomic risk loci, and 39 potentially involved genes.
Conclusions:
- This study identified numerous genetic variants and loci potentially implicated in IgAN pathogenesis.
- Further investigation is required to elucidate the precise mechanisms of these genetic factors in IgAN etiology.
Keywords:
Expression quantitative trait lociFunctional mappingGenome-wide association studyImmunoglobulin A nephropathySummary data-based Mendelian randomizationMore Related Videos
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
13.8K
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...
13.8K
01:05Single Nucleotide Polymorphisms-SNPs
15.5K
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,...
15.5K