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Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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...
Polygenic Traits01:18

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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...
Polygenic Traits01:18

Polygenic Traits

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...
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,...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Related Experiment Video

Updated: May 9, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Multivariate, Multi-Omic Analysis in 799,429 Individuals Identifies 134 Loci Associated with Somatoform Traits.

Christal N Davis1,2, Sylvanus Toikumo1,2, Alexander S Hatoum3

  • 1Mental Illness Research, Education, and Clinical Center, Crescenz VAMC, Philadelphia, PA, USA.

Complex Psychiatry
|May 8, 2026
PubMed
Summary
This summary is machine-generated.

This study reveals a shared genetic basis for somatoform traits and psychopathology, identifying novel genetic loci and potential therapeutic targets. These findings advance understanding of bodily distress symptoms and their treatment. Keywords: somatoform traits, genetic basis, psychopathology, treatment.

Keywords:
GeneticsMulti-omicsPsychopathologySomatoformTransdiagnostic framework

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Psychiatry
  • Internal Medicine

Background:

  • Somatoform traits, including health anxiety and bodily distress, are common and challenging in clinical settings.
  • Understanding the genetic underpinnings of these traits is crucial for improved diagnosis and treatment.

Purpose of the Study:

  • To investigate the genetic architecture of somatoform traits using genome-wide association studies (GWAS) and multi-omic analyses.
  • To identify novel genetic loci and biological pathways associated with somatoform traits.
  • To explore the genetic overlap between somatoform traits and psychopathology, and their potential links to other health conditions.

Main Methods:

  • Conducted a multivariate GWAS and multi-omic analysis on four somatoform traits (fatigue, IBS, pain intensity, health satisfaction) in nearly 800,000 individuals of European ancestry.
  • Performed gene-property analyses, brain transcriptomic analyses, and investigated polygenic overlap with psychiatric factors.
  • Utilized drug repurposing and Mendelian randomization analyses to identify potential therapeutic targets and etiological factors.

Main Results:

  • Identified 134 loci associated with a common somatoform factor, including 8 novel loci linked to nociceptor sensitization and synaptogenesis.
  • Found significant enrichment of genes involved in synaptic transmission, with expression in brain and pituitary tissues.
  • Revealed substantial polygenic overlap (76-83%) between somatoform traits and various psychopathology factors.
  • Discovered associations between somatoform polygenic scores and conditions like obesity, type 2 diabetes, and tobacco use disorder.
  • Suggested MEK inhibitors as potential therapeutics and indicated protective effects of gut microbiota.

Conclusions:

  • Somatoform traits share a common etiology and significant polygenic overlap with psychopathology.
  • Novel biological insights from drug repurposing and Mendelian randomization offer promising directions for developing effective treatments for somatoform traits.