Related Experiment Video
Updated: Jun 8, 2026
10:27
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
A genetic perspective on coeliac disease.
Gosia Trynka1, Cisca Wijmenga, David A van Heel
1Department of Genetics, University Medical Centre Groningen and University of Groningen, Groningen, The Netherlands.
Trends in Molecular Medicine
|October 16, 2010
Summary
Genetic research reveals numerous risk genes for coeliac disease, many impacting immune function and gene expression. These genetic regions are often shared with other immune and non-immune conditions.
Area of Science:
- Genetics
- Immunology
- Gastroenterology
Background:
- Coeliac disease is a heritable, autoimmune inflammatory disorder of the small intestine.
- Genetic studies have identified strong associations with HLA and 39 non-HLA risk genes, predominantly immune-related.
Purpose of the Study:
- To review recent advancements in coeliac disease genetics.
- To describe the pathways of identified risk genes and their functional consequences.
- To explore shared genetic regions between coeliac disease and other health conditions.
Main Methods:
- Review of genetic studies on coeliac disease.
- Analysis of single nucleotide polymorphisms and their correlation with gene expression.
- Comparison of coeliac disease-associated genetic regions with those of other diseases.
Main Results:
- Over 50% of coeliac disease-associated single nucleotide polymorphisms correlate with gene expression.
- Many coeliac disease genetic regions overlap with those linked to other immune disorders, metabolic traits, cancers, and neurological conditions.
Conclusions:
- Coeliac disease genetics involves numerous immune-related genes.
- Genetic risk factors for coeliac disease have functional consequences on gene expression.
- Shared genetic architecture highlights potential links between coeliac disease and other complex traits.
Related Concept Videos
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:25Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
01:11Genome-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...
GWAS does not require the identification of the target gene involved in...