Abstract

Background and AimsThe inflammatory bowel diseases (IBD) are particularly common among the Ashkenazi Jewish (AJ) population. Population-specific estimates of familial risk are important for counseling; however, relatively small cohorts of AJ IBD patients have been analyzed for familial risk to date. This study aimed to recruit a new cohort of AJ IBD patients, mainly from the UK, to determine the familial occurrence of disease.MethodsA total of 864 AJ IBD patients were recruited through advertisements, hospital clinics, and primary care. Participants were interviewed about their Jewish ancestry, disease phenotype, age of diagnosis, and family history of disease. Case notes were reviewed.ResultsThe 864 probands comprised 506 sporadic and 358 familial cases, the latter with a total of 625 affected relatives. Of the UK cases, 40% had a positive family history with 25% having at least one affected first-degree relative. These percentages were lower among those recruited through hospital clinics and primary care (33% for all relatives and 22% among first-degree relatives). Examining all probands, the relative risk of IBD for offspring, siblings, and parents was 10.5, 7.4, and 4, respectively. Age of diagnosis was significantly lower in familial versus sporadic patients with Crohn’s disease.ConclusionsThis study reports familial risk estimates for a significant proportion of the AJ IBD population in the UK. The high rate of a positive family history in this cohort may reflect the greater genetic burden for IBD among AJs. These data are of value in predicting the likelihood of future recurrence of IBD in AJ families.

Highlights

  • Crohn’s disease (CD) and ulcerative colitis (UC) are the two major forms of inflammatory bowel disease (IBD), a heterogeneous group of chronic and debilitating disorders characterized by inflammation of the gastrointestinal tract [1, 2]

  • This study reports updated familial risk estimates for the Ashkenazi Jewish (AJ) inflammatory bowel diseases (IBD) population utilizing a large newly recruited cohort, predominantly from the UK

  • Assuming a 1.2% prevalence of IBD in AJs, the 1261 AJ IBD individuals from the UK in this cohort represent a significant proportion of the estimated total UK AJ IBD population

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Summary

Introduction

Crohn’s disease (CD) and ulcerative colitis (UC) are the two major forms of inflammatory bowel disease (IBD), a heterogeneous group of chronic and debilitating disorders characterized by inflammation of the gastrointestinal tract [1, 2]. Epidemiological studies have consistently shown an increased prevalence of IBD among first-degree relatives (FDRs) of patients with CD and UC; this familial clustering, in addition to the increased incidence of disease among monozygotic (MZ) twins, provided the initial evidence of a genetic predisposition to IBD [7, 8]. A positive family history is the strongest risk factor for developing IBD; FDRs of an IBD patient have a 10–15 times greater risk of the disease. Of the UK cases, 40% had a positive family history with 25% having at least one affected first-degree relative. These percentages were lower among those recruited through hospital clinics and primary care (33% for all relatives and 22% among first-degree relatives). These data are of value in predicting the likelihood of future recurrence of IBD in AJ families

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