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Genome-wide Association Studies-GWAS01:11

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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.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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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,...
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Related Experiment Video

Updated: Jul 12, 2025

Urokinase-type Plasminogen Activator-induced Mouse Back Pain Model
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Multi-Trait Exome-Wide Association Study of Back Pain-Related Phenotypes.

Irina V Zorkoltseva1, Elizaveta E Elgaeva1,2, Nadezhda M Belonogova1

  • 1Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 630090 Novosibirsk, Russia.

Genes
|October 28, 2023
PubMed
Summary

Genetic analysis of back pain (BP) identified SLC13A1 and the novel gene FSCN3 as contributors. Rare variants in FSCN3 offer a promising new drug target for treating chronic back pain.

Keywords:
FSCN3SLC13A1chronic back paindorsalgiaintervertebral disc disorderlinear combination of traitsloss-of-function (LoF) variantrare and ultra-rare genetic variantsshared heritability

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Area of Science:

  • Genetics
  • Molecular Biology
  • Epidemiology

Background:

  • Back pain (BP) is a significant global cause of disability, with 40-60% heritability.
  • Common genetic variants explain less than half of BP heritability, necessitating further research into rare variants.

Purpose of the Study:

  • To investigate the genetic underpinnings of back pain using exome sequencing data.
  • To identify novel genes associated with back pain through multi-trait gene-based association analysis.

Main Methods:

  • Utilized exome sequencing data from the UK Biobank.
  • Performed multi-trait gene-based association analysis on chronic back pain, dorsalgia, and intervertebral disc disorder phenotypes.
  • Analyzed loss-of-function (LoF) and missense variants.

Main Results:

  • Identified the SLC13A1 gene associated with chronic back pain through LoF and missense variants.
  • Discovered the novel gene FSCN3, linked to back pain via LoF variants, using a multi-trait approach.
  • FSCN3 is the second gene identified with LoF variants affecting back pain.

Conclusions:

  • Rare variants in SLC13A1 contribute to chronic back pain.
  • The novel gene FSCN3 is implicated in back pain pathogenesis through LoF variants.
  • FSCN3 represents a potential therapeutic target for back pain treatment.