The missing heritability and IBD – a family study

Through family studies, we investigate connections between heredity, environment, and the development of inflammatory bowel disease (IBD). During the process we also hope to detect biomarkers for the disease.

About the project

Inflammatory bowel disease (IBD) represents chronic complex disorders of the alimentary tract, Crohn’s disease (CD) and ulcerative colitis (UC). 

The pathogenesis of IBD is unknown, but it is believed that there is an interaction between genetic and environmental factors. The highest risk factor of IBD is having a first-degree relative with IBD.

The missing heritability

The estimated heritability from twin studies is high unlike the heritability based on genetic loci associated with IBD identified in genome-wide association studies (GWAS). This gap is called “the missing heritability of IBD”, suggesting that shared household plays an important role in the development of IBD. 

Shared environmental factors can potentially activate pathways involved in the pathogenesis of IBD by modulating the gut microbiome and gene expression, via epigenetic mechanisms, in genetically susceptible hosts.

Collection of data

The present study is based on the IBD-probands who participated in the IBSEN III study and reported at least one first-degree relative with IBD. This is a group of 207 patients. Twenty IBD patients reported more than two cases of IBD in their family (defined as Multiplex family).

Aim of research

The aim om this project is to analyze biological material from multiplex families, comparing the epigenetic and microbial profiles between those with and without IBD and those with and without kinship.

We hope to find new epigenetic and microbial markers for IBD that might be useful as diagnostic and prognostic tools for IBD and to improve the health of IBD patients.

 

Published Mar. 11, 2024 2:59 PM - Last modified Mar. 11, 2024 2:59 PM