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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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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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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.
GWAS does not require the identification of the target gene involved in...
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Multi-tissue transcriptome-wide association study identifies novel candidate genes and pleiotropy effects across four

Dima L Chaar1, Chen Jiang1, Brandon Cowan2

  • 1Division of Research, Kaiser Permanente Northern California (KPNC), Pleasanton, CA 94588, USA.

HGG Advances
|April 10, 2025
PubMed
Summary

This study used transcriptome-wide association studies (TWAS) to identify genes involved in abdominal hernia development. It found 211 genes, including four linked to all hernia types, enhancing our understanding of hernia genetics.

Keywords:
abdominal herniafemoral herniageneticsgenome-wide association studygenomicsinguinal herniamulti-tissuetranscriptome-wide association studyumbilical herniaventral hernia

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Abdominal hernias result from abdominal wall weakness, allowing organ protrusion.
  • Genome-wide association studies (GWASs) have identified 81 genetic loci for hernia susceptibility, but causal genes and shared effects require further investigation.

Purpose of the Study:

  • To conduct transcriptome-wide association study (TWAS) analyses for four abdominal hernia subtypes.
  • To identify novel genes and characterize shared genetic effects across different hernia types.
  • To prioritize causal genes at known GWAS loci.

Main Methods:

  • Performed TWAS on inguinal, umbilical, ventral, and femoral hernias using GWAS summary statistics.
  • Analyzed data from up to 57,291 hernia cases and 436,717 controls of European ancestry.
  • Leveraged imputed gene expression data from 54 diverse human tissues.

Main Results:

  • Identified 211 unique genes associated with hernia development.
  • Discovered 85 novel genes not previously linked to hernia susceptibility loci.
  • Found four genes (LYPLAL1-AS1, RIMKLBP2, AL513283.1, EFEMP1) exhibiting pleiotropy across all four hernia subtypes.

Conclusions:

  • TWAS provides valuable insights into the transcriptomic mechanisms underlying abdominal hernia formation.
  • The identified genes, particularly those with pleiotropic effects, offer potential targets for future research and therapeutic strategies.
  • This study expands the understanding of genetic contributions to hernia development and highlights shared genetic factors across subtypes.