Screening for variants in TPMT did not reduce the proportions of patients with hematologic ADRs during thiopurine treatment for IBD. However, there was a 10-fold reduction in hematologic ADRs among variant carriers who were identified and received a dose reduction, compared with variant carriers who did not, without differences in treatment efficacy. ClinicalTrials.gov number: NCT00521950.

Our results support the emerging hypothesis that genetically determined immune activity plays a role in the pathophysiology of IBS. Future studies in larger, clinically relevant, IBS subgroups are warranted to establish definite associations with cytokine gene polymorphisms.

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In this IBS cohort, dysfunctional cognitions independently influence physical and mental QoL and symptom severity. Presence of possible anxiety and depression disorders resulted in higher symptoms, lower QoL, and higher CSFBD scores. The results point toward an important role of psychological factors, especially dysfunctional cognitions on QoL and symptom scores in IBS patients.

Rectal hypersensitivity is associated with mucosal presence and activation of mast cells and with IBS-like symptoms in patients with UCR.