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Genome-wide Association Studies-GWAS

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...

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Related Experiment Video

Updated: Jun 8, 2025

Author Spotlight: Treating Frozen Shoulder with Small Needle Knife Therapy

Author Spotlight: Treating Frozen Shoulder with Small Needle Knife Therapy

Published on: November 17, 2023

Exploring Pathogenic Genes in Frozen Shoulder through weighted gene co-expression network analysis and Mendelian

Dusu Wen¹, Bin Li¹, Shun Guo¹

¹Division of Joint Surgery and Sports Medicine, Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.

International Journal of Medical Sciences

|November 8, 2024

Summary

This summary is machine-generated.

Genetic factors like ADAMTS1, NR4A2, PARD6G, and SMKR1 may increase frozen shoulder risk. Identifying these genes aids understanding and potential treatments for this joint capsule condition.

Keywords:

differentially expressed genes frozen shoulder immune cell infiltration mendelian randomization weighted gene co-expression network analysis

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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Last Updated: Jun 8, 2025

Author Spotlight: Treating Frozen Shoulder with Small Needle Knife Therapy

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Published on: November 17, 2023

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

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Published on: August 21, 2016

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

Genetics and Molecular Biology
Immunology
Orthopedics

Background:

Frozen shoulder (FS) involves joint capsule thickening and fibrosis, leading to contracture and reduced joint volume.
The exact causes of these pathological changes in FS remain unclear.

Purpose of the Study:

To investigate the potential involvement of pathogenic genes in frozen shoulder.
To analyze the roles of these genes in FS disease progression.
To identify key genes causally linked to FS.

Main Methods:

Differential gene expression analysis and Weighted Gene Co-expression Network Analysis (WGCNA) identified co-expressed genes.
Mendelian randomization (MR) analysis, using expression quantitative trait loci (eQTL) and GWAS data, identified causal genes.
RT-qPCR validated key genes; nomogram and ROC curves assessed diagnostic value; CIBERSORT analyzed immune cell infiltration.

Main Results:

295 overlapping co-expressed genes were identified.
Four genes (ADAMTS1, NR4A2, PARD6G, SMKR1) showed a positive causal relationship with FS, confirmed by RT-qPCR.
A nomogram model and ROC curves indicated diagnostic value; ADAMTS1 was linked to immune cell infiltration in FS.

Conclusions:

Higher expression levels of ADAMTS1, NR4A2, PARD6G, and SMKR1 are associated with increased frozen shoulder risk.
These findings suggest a genetic predisposition to FS.
Further research into these genes' functions could lead to targeted FS treatments.