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Related Concept Videos

Pleiotropy01:33

Pleiotropy

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,...
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...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Factors Affecting Illness01:18

Factors Affecting Illness

When a person's physical, emotional, intellectual, social development or spiritual functioning is compromised, this deviation from a healthy normal state is called illness. Illness creates stress that in turn harms individuals. Irritation, anger, denial, hopelessness, and fear are behavioral and emotional changes an individual experiences in the phases of illness. A variety of factors influence a person's health and well-being.
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Related Experiment Videos

The immunoproteome and multimorbidity: A Mendelian randomization study.

Nikita Hukerikar1, Aroon D Hingorani2,3, Sandesh Chopade2,3

  • 1Institute of Health Informatics, Faculty of Population Health Sciences, University College London, 222 Euston Road, London NW1 2DA, UK.

Science Advances
|May 20, 2026
PubMed
Summary

This study reveals how immune proteins impact multiple diseases, identifying shared mechanisms and drug targets. Findings highlight opportunities for new treatments for conditions like heart disease and diabetes.

Related Experiment Videos

Area of Science:

  • Immunology
  • Genetics
  • Pharmacology

Background:

  • Multimorbidity, the presence of multiple chronic diseases, poses significant challenges in research and clinical practice.
  • Understanding shared underlying mechanisms is crucial for developing effective treatments for complex health conditions.

Purpose of the Study:

  • To investigate the influence of immune proteins on multiple diseases.
  • To identify shared biological mechanisms and potential therapeutic targets for common diseases.

Main Methods:

  • Utilized eight large plasma proteome Genome-Wide Association Studies (GWAS) to identify cis-acting variants for 151 immune proteins.
  • Applied cis-Mendelian randomization to assess associations between immune proteins and 64 diseases/biomarkers.
  • Constructed a knowledge graph to derive protein-disease communities, integrating association strength, druggability, and tissue-trait data.

Main Results:

  • Identified immune proteins frequently associated with coronary heart disease, venous thromboembolism, atrial fibrillation, type 2 diabetes, and Parkinson's disease.
  • Seven protein communities linked to pathways like ficolin binding and antimicrobial peptides, enriched for proteins affecting multiple diseases.
  • Replicated associations with colocalization support for APOE, CD163, and IL-6R across neurodegenerative, cardiometabolic, and inflammatory traits.

Conclusions:

  • Found strong genetic evidence for druggable immune proteins with pleiotropic effects across common diseases.
  • Highlighted opportunities for expanding drug indications and developing novel therapeutics based on immune protein functions.
  • Demonstrated the utility of integrating proteome-wide association studies and knowledge graphs for uncovering disease mechanisms.