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阿什肯纳兹犹太人群体中炎症性肠病家族风险的新视角。

A New Look at Familial Risk of Inflammatory Bowel Disease in the Ashkenazi Jewish Population.

机构信息

Centre for Molecular Medicine, Division of Medicine, University College London, London, UK.

Department of Gastroenterology, University College London Hospital, London, UK.

出版信息

Dig Dis Sci. 2018 Nov;63(11):3049-3057. doi: 10.1007/s10620-018-5219-9. Epub 2018 Sep 3.

Abstract

BACKGROUND AND AIMS

The 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.

METHODS

A 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.

RESULTS

The 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.

CONCLUSIONS

This 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.

摘要

背景和目的

炎症性肠病(IBD)在阿什肯纳兹犹太(AJ)人群中尤为常见。对于咨询而言,特定人群的家族风险估计非常重要;但是,迄今为止,仅对少数 AJ IBD 患者队列进行了家族风险分析。本研究旨在招募新的 AJ IBD 患者队列,主要来自英国,以确定疾病的家族发生情况。

方法

通过广告、医院诊所和初级保健共招募了 864 名 AJ IBD 患者。对参与者进行了关于其犹太血统、疾病表型、诊断年龄和疾病家族史的访谈。回顾了病历。

结果

864 名先证者包括 506 例散发性和 358 例家族性病例,后者共有 625 名受累亲属。在英国病例中,40%有阳性家族史,其中 25%至少有一位一级亲属受累。通过医院诊所和初级保健招募的患者中,这些百分比较低(所有亲属为 33%,一级亲属为 22%)。检查所有先证者,IBD 的后代,兄弟姐妹和父母的相对风险分别为 10.5、7.4 和 4。家族性 versus 散发性克罗恩病患者的诊断年龄明显较低。

结论

本研究报告了英国 AJ IBD 人群中相当一部分的家族风险估计。在该队列中,阳性家族史的高发生率可能反映了 AJ 中 IBD 的遗传负担更大。这些数据对于预测 AJ 家族中 IBD 的未来复发可能性具有重要价值。

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