Genetic Epidemiology in Inflammatory Bowel Disease

Family studies of different designs have been carried out in the last few years. Five to ten percent of patients have another case of inflammatory bowel disease (IBD) among their first-degree relatives, with about 75–80% concordance for the same disease within the family. About 20% of multi-affected families present both cases with ulcerative colitis and Crohn’s disease. The population relative risk in first-degree relatives of patients show a 14–15 times higher prevalence of IBD. Prevalence values of 1.5–3.5% in first-degree relatives have been found, with an even higher calculated lifetime risk especially in offspring and siblings of patients with IBD. Earlier disease onset in offspring of patients with IBD have consistently been found, and genetic anticipation has been hypothesized. The phenomenon, however, may be a result of a combination of a time trend – increasing the incidence of Crohn’s disease – and the fact that patients with early onset of IBD may have lower fertility and therefore may be underrepresented in the parent-child pairs studied. Twin studies have shown significantly higher concordance rates in monozygotic than in dizygotic twins. Further, the concordance rate in monozygotic twins is higher in Crohn’s disease than in ulcerative colitis, indicating a stronger genetic influence in this condition. Disease course and prognosis within families have been studied without convincing concordance found in this respect among family members.