Inflammatory bowel disease aggregation in Utah kindreds.
Inflammatory bowel disease aggregation in Utah kindreds.
复制标题
犹他州家族中炎症性肠病的聚集。
DOI：
10.1002/ibd.21390
复制
发表时间：
2011
影响因子：
4.9
通讯作者：
Kerber,RichardA
中科院分区：
文献类型：
--
作者：
Guthery,StephenL;Mineau,Geraldine;Pimentel,Richard;Williams,MarcS;Kerber,RichardA
BackgroundThe observed heritability of inflammatory bowel disease (IBD) is incompletely explained by known genetic risk factors. Kindred-specific genetic variants that cause IBD may be a source of “missing heritability.” Given that they have been previously difficult to identify, we sought to identify high-risk IBD kindreds.MethodsWe used a large population-based database—the Utah Population Database (UPDB)—which contains genealogical and healthcare data to characterize the risk of Crohn's disease (CD), ulcerative colitis (UC), and IBD in kindreds. We identified CD and UC cases using ICD-9 codes. We calculated the adjusted relative risk to relatives of affected individuals. We calculated the familial standardized incidence ratio (FSIR) to quantify the kindred-specific disease risk.ResultsIn all, 3601 CD cases and 3976 UC cases met inclusion criteria. A total of 655 CD kindreds and 615 UC kindreds had a statistical excess of disease. Risk of disease varied among kindreds, with some kindreds demonstrating ≈20-fold elevated risk. For CD, UC, and IBD, relative risks were significantly elevated for first- and second-degree relatives and first cousins. The adjusted population attributable risks for familial CD, UC, and IBD were 0.20 (95% confidence interval [CI]: 0.17–0.23); 0.17 (0.14–0.21); and 0.19 (0.17–0.22), respectively.ConclusionsWe identified multiple kindreds with a statistical excess of CD, UC, and IBD, and validated the UPDB as a resource for family studies in IBD. Given the need for novel genetic mapping strategies to explain the apparent missing heritability in IBD, further studies of these high-risk kindreds is justified. (Inflamm Bowel Dis 2011)
