Related Experiment Video

Updated: Nov 2, 2025

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
09:43

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice

Published on: June 8, 2022

3.2K

Variants in BANK1 are associated with lupus nephritis of European ancestry

Karin Bolin1, Juliana Imgenberg-Kreuz1, Dag Leonard1

  • 1Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Genes and Immunity
|June 15, 2021
PubMed

Insights

Genetic variations in BANK1 are linked to lupus nephritis (LN), a kidney complication of SLE. This study identifies BANK1 as a potential factor in LN development, highlighting its role in disease pathogenesis.

Area of Science:

  • Genetics
  • Immunology
  • Nephrology

Background:

  • The genetic underpinnings of lupus nephritis (LN), a severe manifestation of systemic lupus erythematosus (SLE), remain incompletely understood.
  • Identifying genetic factors associated with LN is crucial for understanding its pathogenesis and developing targeted therapies.

Purpose of the Study:

  • To investigate the genetic associations with lupus nephritis (LN) in a large cohort of SLE patients.
  • To explore the role of genetic variations, specifically in the BANK1 gene, in LN pathogenesis and its regulation by DNA methylation.

Main Methods:

  • A case-only study design involving 2886 SLE patients, with 947 diagnosed with LN.
  • Genotyping was performed using Immunochip and a custom array across discovery and replication cohorts (Sweden, US, Denmark/Norway).
  • DNA methylation data was analyzed to identify methylation quantitative trait loci (meQTL) effects.

Main Results:

  • Six loci, including BANK1, were initially associated with LN in the discovery cohort.
  • BANK1 variants showed a significant association with LN across meta-analyses of multiple cohorts (p = 2.2 × 10-7).
  • DNA methylation data revealed meQTL effects between CpG sites and BANK1 variants in LN patients.

Conclusions:

  • Genetic variations in the BANK1 gene are significantly associated with lupus nephritis (LN).
  • Evidence suggests that DNA methylation within the BANK1 locus is genetically regulated, indicating a functional role for BANK1 in LN.
  • The study highlights BANK1 as a key genetic factor contributing to the pathogenesis of lupus nephritis.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.2K
The bm12 Inducible Model of Systemic Lupus Erythematosus SLE in C57BL/6 Mice12:04

The bm12 Inducible Model of Systemic Lupus Erythematosus SLE in C57BL/6 Mice

Published on: November 1, 2015

18.1K

Related Concept Videos

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...
14.8K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.2K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
228
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,...
17.1K