Abstract:
BACKGROUND:The accuracy and utility of electronic health record (EHR)-derived phenotypes in replicating genotype-phenotype relationships have been infrequently examined. Low circulating vitamin D levels are associated with severe outcomes in inflammatory bowel disease (IBD); however, the genetic basis for vitamin D insufficiency in this population has not been examined previously. METHODS:We compared the accuracy of physician-assigned phenotypes in a large prospective IBD registry to that identified by an EHR algorithm incorporating codified and structured data. Genotyping for IBD risk alleles was performed on the Immunochip and a genetic risk score calculated and compared between EHR-defined patients and those in the registry. Additionally, 4 vitamin D risk alleles were genotyped and serum 25-hydroxy vitamin D [25(OH)D] levels compared across genotypes. RESULTS:A total of 1131 patients captured by our EHR algorithm were also included in our prospective registry (656 Crohn's disease, 475 ulcerative colitis). The overall genetic risk score for Crohn's disease (P = 0.13) and ulcerative colitis (P = 0.32) was similar between EHR-defined patients and a prospective registry. Three of the 4 vitamin D risk alleles were associated with low vitamin D levels in patients with IBD and contributed an additional 3% of the variance explained. Vitamin D genetic risk score did not predict normalization of vitamin D levels. CONCLUSIONS:EHR cohorts form valuable data sources for examining genotype-phenotype relationships. Vitamin D risk alleles explain 3% of the variance in vitamin D levels in patients with IBD.
journal_name
Inflamm Bowel Disjournal_title
Inflammatory bowel diseasesauthors
Ananthakrishnan AN,Cagan A,Cai T,Gainer VS,Shaw SY,Churchill S,Karlson EW,Murphy SN,Kohane I,Liao KP,Xavier RJdoi
10.1097/MIB.0000000000000524subject
Has Abstractpub_date
2015-11-01 00:00:00pages
2507-14issue
11eissn
1078-0998issn
1536-4844journal_volume
21pub_type
杂志文章abstract:BACKGROUND:To investigate the contribution of multidrug resistance 1 (MDR1) gene pharmacogenetics (G2677T/A and C3435T) to the efficacy of azathioprine in inducing remission in patients with Crohn's disease (CD). METHODS:A cohort of 327 unrelated Spanish patients with CD recruited from a single center was studied. All...
journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1097/MIB.0b013e318280b11a
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1097/MIB.0000000000000545
更新日期:2015-12-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 临床试验,杂志文章
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章,随机对照试验
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章,评审
doi:10.1002/ibd.21061
更新日期:2010-04-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章,多中心研究,随机对照试验
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pub_type: 杂志文章,多中心研究
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
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更新日期:2010-06-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1097/01.mib.0000235830.94057.c6
更新日期:2006-12-01 00:00:00
abstract::: Restorative proctocolectomy with ileal pouch-anal anastomosis is the standard surgical treatment modality for patients with ulcerative colitis who require colectomy. There are special issues related to male gender. We performed systemic literature review on the topic, incorporating the experience in our specialized ...
journal_title:Inflammatory bowel diseases
pub_type: 杂志文章,评审
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更新日期:2015-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1002/ibd.20924
更新日期:2009-09-01 00:00:00
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pub_type: 杂志文章,meta分析
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更新日期:2018-11-29 00:00:00
abstract:BACKGROUND:The efficacy of anti-tumor necrosis factor monoclonal antibody (anti-TNF mAb) for Crohn's disease (CD) is well established, and anti-interleukin-6 receptor (anti-IL-6R) mAb has also been reported to be effective in CD. It is, however, unclear if the efficacy and mechanisms of both agents are different in CD ...
journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1002/ibd.21384
更新日期:2011-02-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章,多中心研究
doi:10.1097/MIB.0b013e31828f19c9
更新日期:2013-08-01 00:00:00
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,随机对照试验
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更新日期:2013-05-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
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更新日期:2012-09-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 临床试验,杂志文章
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更新日期:2013-02-01 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1093/ibd/izz025
更新日期:2019-09-18 00:00:00
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journal_title:Inflammatory bowel diseases
pub_type: 杂志文章
doi:10.1097/MIB.0000000000001222
更新日期:2017-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-09-18 00:00:00
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更新日期:2017-08-01 00:00:00
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更新日期:2020-03-04 00:00:00
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