FUT2 mutations tied to positive clinical course in Crohn’s disease

An association exists between fucosyltransferase 2 (FUT2) mutation status and a favourable clinical course in Crohn’s disease (CD), reports a study.

“FUT2 participates in intestinal antigen secretion and bacterial adherence. FUT2 homozygous nonsense mutations (FUT2M) and subsequent nonsecretor status is associated with CD. The common null allele is rs601338,” the authors said.

In this study, the authors collected clinical, biochemical, and genetic data of consecutive adult CD outpatients at baseline visits. Sixty-two patients were longitudinally followed over 5 years. They then analysed the primary outcome, which is the relationship between FUT2M and rates of CD patients in persistent steroid-free clinical remission not requiring surgery, biologics, or immunomodulators.

Of the 62 CD patients, 17 (27 percent) had FUT2M homozygotes (rs601338 or any mutation in linkage disequilibrium). Those with rs601338 mutations displayed higher rates of the primary outcome (homozygous: 46.6 percent; heterozygous: 28.0 percent; wild-type: 5.3 percent; p=0.02). Similar findings were observed for CD patients with homozygous mutations in any single-nucleotide polymorphism for FUT2 (homozygous: 41.2 percent; heterozygous: 25.9 percent; wild-type: 5.6 percent; p=0.04).

Multivariable analysis revealed that rs601338 mutation was associated with the primary outcome (odds ratio, 3.4, 95 percent confidence interval, 1.3‒8.7; p=0.01), but other parameters were not. Mutation of rs601338 correlated with lower rates of penetrating disease (homozygous: 13.3 percent; heterozygous: 28.0 percent; wild-type: 52.6 percent; p=0.05) and particularly in high-risk patients (homozygous: 0 percent; heterozygous: 37.5 percent; wild-type: 83.3 percent; p=0.01).

“Further confirmatory studies are needed,” the authors said.