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. 2021 Apr 9;21(1):160.
doi: 10.1186/s12876-021-01740-6.

Distinct clinical phenotypes for Crohn's disease derived from patient surveys

Tianyun Liu  1 , Lichy Han  2 , Mera Tilley  3 , Lovisa Afzelius  3 , Mateusz Maciejewski  3 , Scott Jelinsky  3 , Chao Tian  4 , Matthew McIntyre  4 ; 23andMe Research Team; Nan Bing  3 , Kenneth Hung  3 , Russ B Altman  5
Collaborators, Affiliations

Distinct clinical phenotypes for Crohn's disease derived from patient surveys

Tianyun Liu et al. BMC Gastroenterol. .

Abstract

Background: Defining clinical phenotypes provides opportunities for new diagnostics and may provide insights into early intervention and disease prevention. There is increasing evidence that patient-derived health data may contain information that complements traditional methods of clinical phenotyping. The utility of these data for defining meaningful phenotypic groups is of great interest because social media and online resources make it possible to query large cohorts of patients with health conditions.

Methods: We evaluated the degree to which patient-reported categorical data is useful for discovering subclinical phenotypes and evaluated its utility for discovering new measures of disease severity, treatment response and genetic architecture. Specifically, we examined the responses of 1961 patients with inflammatory bowel disease to questionnaires in search of sub-phenotypes. We applied machine learning methods to identify novel subtypes of Crohn's disease and studied their associations with drug responses.

Results: Using the patients' self-reported information, we identified two subpopulations of Crohn's disease; these subpopulations differ in disease severity, associations with smoking, and genetic transmission patterns. We also identified distinct features of drug response for the two Crohn's disease subtypes. These subtypes show a trend towards differential genotype signatures.

Conclusion: Our findings suggest that patient-defined data can have unplanned utility for defining disease subtypes and may be useful for guiding treatment approaches.

Keywords: Classification; Crohn’s disease; Patient-reported data; Phenotypes; Subtypes.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Structure of the questionnaire and the process of question selection. A total of seventeen questions are used for classification. External evidence (or labels) derived from background questions and drug response are used to evaluate the classification. Details of the selection process are in Additional file 1: Table S1 and the “Methods” section
Fig. 2
Fig. 2
Compare feature enrichments in UC (843 patients), CD (1118 patients) and two CD subtypes: UC-like CD (456 CD1) and CD-like CD (662 CD2). The percentage of patients with present features in the subpopulation are plotted. Ten features that are significantly enriched in CD2 are marked with asterisks
See this image and copyright information in PMC

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