Common Genetic Variants Influence Circulating Vitamin D Levels in Inflammatory Bowel Diseases.

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 gen

SUBMITTER: Ananthakrishnan AN 

PROVIDER: S-EPMC4615315 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature