Related Experiment Video
Updated: May 8, 2025
06:20
Urokinase-type Plasminogen Activator-induced Mouse Back Pain Model
Published on: September 1, 2023
873
A multi-trait approach identified 7 novel genes for back pain.
Nadezhda M Belonogova1, Elizaveta E Elgaeva1,2, Irina V Zorkoltseva1
1Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
Pain Reports
|December 27, 2024
Summary
Researchers identified 7 novel genes linked to back pain (BP) using advanced genetic analysis. This study enhances our understanding of the genetic underpinnings of this common and complex condition.
Area of Science:
- Genetics
- Human complex traits
- Bioinformatics
Background:
- Back pain (BP) is a complex heritable trait, with 40%-60% heritability.
- Known genetic variants explain less than half of BP heritability.
- Identifying novel genetic factors for BP is crucial for understanding its etiology.
Purpose of the Study:
- To identify novel genes associated with back pain (BP).
- To leverage a multi-trait, gene-based association analysis approach.
- To enhance the genetic understanding of BP.
Main Methods:
- Utilized UK Biobank 500k dataset phenotypes and imputed genotypes.
- Combined three BP-related phenotypes (chronic BP, dorsalgia, intervertebral disk disorders) into a multi-trait phenotype.
- Performed gene-based association analysis and conditional analysis, followed by replication in the FinnGen database.
Main Results:
- Identified 32 genes associated with BP, with 16 successfully replicated.
- Discovered 13 genes using the multi-trait phenotype.
- Reported 7 novel genes for BP: MIPOL1, PTPRC, RHOA, MAML3, JADE2, MLLT10, and RERG, some linked to BP-related pathways.
Conclusions:
- Successfully identified 7 novel genes associated with back pain using advanced genetic methods.
- The findings offer new insights into the genetic architecture of back pain.
- This research contributes to a deeper understanding of the genetic factors influencing back pain.
Related Concept Videos
01:33Pleiotropy
37.5K
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,...
37.5K
01:11Genome-wide Association Studies-GWAS
12.0K
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...
12.0K
01:23Behavioral Genetics and Its Designs
288
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
288