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家族性炎症性肠病风险:韩国基于人群的队列研究。

Familial Risk of Inflammatory Bowel Disease: A Population-Based Cohort Study in South Korea.

机构信息

Department of Preventive Medicine, College of Medicine, Korea University, Seoul, Korea.

Division of Gastroenterology, Hepatology, and Nutrition, Vanderbilt University Medical Center, Nashville, Tennessee.

出版信息

Clin Gastroenterol Hepatol. 2021 Oct;19(10):2128-2137.e15. doi: 10.1016/j.cgh.2020.09.054. Epub 2020 Oct 1.

Abstract

BACKGROUND & AIMS: Despite the rapid increase in inflammatory bowel disease (IBD), population-level familial risk estimates of IBDs still are lacking in Asian-Pacific countries. We aimed to quantify the familial risk of incident IBD among first-degree relatives (FDRs) of individuals with IBD according to age, sex, and familial relationship.

METHODS

Using the South Korea National Health Insurance database (2002-2017), which has complete population coverage and confirmed accuracy of both FDR information and IBD diagnoses, we constructed a cohort of 21,940,795 study subjects comprising 12 million distinct families. We calculated incidence risk ratios of ulcerative colitis (UC) or Crohn's disease (CD) in individuals of affected FDRs compared with individuals without affected FDRs.

RESULTS

Of 45,717 individuals with UC and 17,848 individuals with CD, 3.8% and 3.1% represented familial cases, respectively. Overall, there was a 10.2-fold (95% CI, 9.39-11.1) and a 22.1-fold (95% CI, 20.5-24.5) significantly higher adjusted risk of UC and CD among FDRs of individuals with vs without IBD. Familial risk was highest among twins, followed by nontwin siblings, and then offspring of affected parents. Familial risk generally was higher within generations (sibling-sibling) vs between generations (parent-offspring). Familial risk also increased with the increasing number of affected FDRs.

CONCLUSIONS

According to this population-based analysis, there is a substantially increased risk of IBD among FDRs of affected individuals, with the highest risk among siblings and for CD. These findings might help with an earlier diagnosis and appropriate therapeutic intervention in FDRs of individuals with IBD. Dedicated studies are needed to evaluate the contributions of shared early-in-life environmental exposures and genetic factors.

摘要

背景与目的

尽管炎症性肠病(IBD)的发病率迅速增加,但亚太地区的人群中 IBD 的家族风险估计仍缺乏数据。本研究旨在根据年龄、性别和家族关系,量化 IBD 患者一级亲属(FDR)中 IBD 的发病风险。

方法

利用韩国国家健康保险数据库(2002-2017 年),该数据库具有完整的人口覆盖范围和 FDR 信息以及 IBD 诊断的准确性,我们构建了一个包含 21940795 名研究对象的队列,包括 1200 万个不同的家庭。我们计算了受影响 FDR 个体与无受影响 FDR 个体相比溃疡性结肠炎(UC)或克罗恩病(CD)的发病风险比。

结果

在 45717 例 UC 患者和 17848 例 CD 患者中,分别有 3.8%和 3.1%为家族性病例。总体而言,与无 IBD 的个体相比,IBD 个体的 FDR 患 UC 和 CD 的风险分别高 10.2 倍(95%CI,9.39-11.1)和 22.1 倍(95%CI,20.5-24.5)。在同卵双胞胎中,FDR 的发病风险最高,其次是非同卵兄弟姐妹,然后是受影响父母的子女。家族风险通常在同一代(兄弟姐妹)中比跨代(父母-子女)中更高。家族风险也随着受影响 FDR 数量的增加而增加。

结论

根据这项基于人群的分析,IBD 患者的 FDR 患 IBD 的风险显著增加,受影响兄弟姐妹的风险最高,CD 的风险最高。这些发现可能有助于对 IBD 患者的 FDR 进行早期诊断和适当的治疗干预。需要专门的研究来评估共同的早期生活环境暴露和遗传因素的贡献。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2c26/8284845/025cd978f714/nihms-1705726-f0001.jpg

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